UNIT 13 (OPTION) Genetic Abnormalities

Size: px
Start display at page:

Download "UNIT 13 (OPTION) Genetic Abnormalities"

Transcription

1 Unit 13 Genetic Abnormailities 1 UNIT 13 (OPTION) Genetic Abnormalities Originally developed by: Hildur Helgedottir RN, MN Revised (2000) by: Marlene Reimer RN, PhD, CCN (C) Associate Professor Faculty of Nursing University of Calgary & Associate in Nursing Calgary Regional Health Authority

2 Unit 13 Table of Contents Overview...4 Aim...4 Objectives...4 Resources...4 Web Links...5 Section 1: Genetic Abnormalities...6 Learning Activity #1: Self-Assessment Questions...6 Learning Activity #2: Case Study Genetics...8 Genetic Counselling...9 Learning Activity #3: Post Test...10 Final Thoughts...11 References...12 Checklist of Requirements...13 Answers to Learning Activities...14 Learning Activity #1: Self Assessment...14 Learning Activity #3: Post Test...15

3 Unit 13 Genetic Abnormailities 3 UNIT 13 Genetic Abnormalities Genetic and chromosomal disorders affect all age groups and can involve any body organ or tissue in the human body. Gaining a comprehensive understanding of the nature and consequences of these disorders therefore has direct implications for nurses working in any setting. In addition to working with clients suffering from diseases secondary to genetic abnormalities, nurses also have an increasing role to play in the rapidly advancing field of genetic counselling and prenatal diagnosis. Sound knowledge of the pathophysiology of genetic disorders is therefore an important aspect of nursing in today s health care system. Genetics has become one of the hottest areas for basic medical research in the nineties. Evidence is rapidly accumulating that genetic patterns are among the multiple factors which affect susceptiblity to certain diseases.

4 4 Unit 13 Genetic Abnormalities Overview Aim The aim of this unit is to facilitate your understanding of how genetic and chromosomal abnormalities may develop and how these disorders can be expressed as disease. While completing this unit you are expected to become familiar with the terminology specific to this field of study and be able to use this terminology to describe the development and implications of specific disorders. Objectives Upon completing this unit you will be able to: 1. Define common genetic terms 2. Describe mechanisms by which genetic abnormalities may develop 3. Explain ways in which genetic abnormalities may be manifested 4. Briefly describe genetic counselling, including methods for genetic screening and prenatal diagnosis Resources Requirements Review: Mitosis and meiosis as basics for genetics. McCance and Huether (2001), p. 123, Figure 4-7 provide a detailed diagram of meiosis. If you wish to review cell structure and division more thoroughly, refer to Chapter 1 in the course text. Read: McCance and Huether (1998), pp. 115, , , , (skim with attention to the definition of terms.) Print Companion: Genetic Abnormalities Learning Activities Learning Activity #1: Self-assessment Learning Activity #2: Case Study Learning Activity #3: Post Test Rankin, Reimer & Then revised edition. NURS 461 Pathophysiology, University of Calgary

5 Unit 13 Genetic Abnormailities 5 Supplemental Materials Raff, B. (1994). Nursing and genetics for the 21st century. JOGNN, 23(6), This article provides an excellent review of basic knowledge, explains new information about genetics and heredity. Bulletin of the Hereditary Diseases Program of Alberta. Available in LRC or by writing to: Editorial Office Bulletin of Hereditary Diseases Program Alberta Children s Hospital 1820 Richmond Rd. SW Calgary, Alberta, T2T 5C7 Note: There is no glossary or acronym list for this unit because we suggest that you make your own as you work through the required readings and learning activities. Web Links All web links in this unit can be accessed through the Web CT system.

6 6 Unit 13 Genetic Abnormalities Section 1: Genetic Abnormalities Learning Activity #1: Self-Assessment Questions Complete the following questions, based on the required readings. Answers are provided at the end of this unit. 1. What are the roles of genes in the human body? 2. Define the following: a. chromatin b. gene expression c. genotype d. phenotype e. karyotype Rankin, Reimer & Then revised edition. NURS 461 Pathophysiology, University of Calgary

7 Unit 13 Genetic Abnormailities 7 3. Differentiate between the following disorders and give an example of each: a. autosomal dominant b. autosomal recessive c. X-linked recessive 4. Answer the following questions: a. What are chromosome disorders and why do they occur? b. Name three syndromes resulting from chromosomal disorders. Explain the cause of each abnormality.

8 8 Unit 13 Genetic Abnormalities Learning Activity #2: Case Study Genetics Mr. and Mrs. Tandy are 42 years old and have been married for 19 years. They have two daughters (15 and 17 years of age), both are healthy high school students. Mr. Tandy is an only child. Mrs. Tandy had a younger brother who had Hemophilia A and required frequent blood transfusions until he died of AIDS in One week ago, Mrs. Tandy found out that she is pregnant. According to ultrasound she is seven weeks into this unplanned, unexpected pregnancy. Although the couple is delighted at the prospect of having a new baby, they nevertheless have some serious concerns regarding the health of their unborn baby. 1. What are the two primary concerns regarding the Tandy s unborn baby? Why? 2. What is the likelihood of the Tandy s daughters being carriers of Hemophilia A? Draw a genogram if helpful. Rankin, Reimer & Then revised edition. NURS 461 Pathophysiology, University of Calgary

9 Unit 13 Genetic Abnormailities 9 Genetic Counselling Genetic counselling is the process by which patients relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing and transmitting it, and the ways in which it may be prevented or ameliorated. The Alberta Hereditary Diseases Program Genetic Counselling Program at Alberta Children's Hospital is an excellent resource. Stages in Genetic Counselling 1. Precounselling Assessment Diagnosis, Family History, Special Tests (chromosomes, etc,) 2. Recurrence Risk Estimation Based on pedigree analysis, medical literature, test results 3. Communication Nature and consequences of disorder recurrence risk, treatment (if available) preventive measures (prenatal diagnosis, artificial insemination by donor, etc.) 4. Follow-up Written reports to referring physician and consultant. Referral to appropriate health care agencies, self help organizations, etc. as require Who should consider genetic counselling? 1. Individuals who have a birth defect or genetic disorder. 2. Couples with a child or close relative who has a birth defect, mental retardation or a genetic disorder. 3. Couples in which the woman is over 34 years and who are planning a pregnancy. 4. Couples who have had three or more miscarriages or stillbirths. 5. Individuals at risk for late onset genetic disorders, (e.g., familial hypercholesterolemia) 6. Individuals who could be carriers for such disorders as sickle cell disease or Tay-Sachs disease, because of their ethnic background.

10 10 Unit 13 Genetic Abnormalities Prenatal Diagnosis: Amniocentesis Chorionic Villi Sampling Learning Activity #3: Post Test Match the type of genetic problem in the first column with the correct disease example(s) in the second. Answers can be found at the end of this unit. Genetic Problem A. Chromosome error B. Single gene inheritance autosomnal dominant C. Single gene inheritance autosomnal recessive D. X-linked inheritance Disease Tay-Sachs disease Neurofibromatosis Huntington disease Hemophilia Prader-Willi syndrome E. Multifactorial inheritance Rankin, Reimer & Then revised edition. NURS 461 Pathophysiology, University of Calgary

11 Unit 13 Genetic Abnormailities 11 Final Thoughts The principles of genetic and chromosomal abnormalities have been reviewed. An understanding of these principles provides the basis for applying this knowledge to specific disorders expressed as a result of genetic and chromosomal defects. The rapid advances in the field of genetics and prenatal diagnosis makes it imperative for nurses to remain current.

12 12 Unit 13 Genetic Abnormalities References Conover, E. (1994). Hazardous exposures during pregnancy. JOGNN, 23(6), Forsman, I. (1994). Evolution of the nursing role in genetics. JOGNN, 23(6), Gore Olsen, D. (1994). Parental adjustment to a child with genetic disease: One parent s reflections. JOGNN, 23(6), Jones, S. L. (1994). Assisted reproductive technologies: Genetic and nursing implications. JOGNN, 23(6), Mackta, J., & Weiss, J. O. (1994). The role of genetic support groups. JOGNN, 23(6), McCance, K., & Huether, S. (2001). Pathophysiology: The biologic basis for disease in adults and children (4 th ed.). St. Louis: Mosby. Penticuff, J. (1994). Ethical issues in genetic therapy. JOGNN, 23(6), Raff, B. S. (1994). The Genome Project. JOGNN, 23(6), Raff, B. S. (1994). Nursing and genetics for the 21st century. JOGNN, 23(6), Ross, L. J. (1994). Developmental disabilities: Genetic implications. JOGNN, 23(6), Wright, L. (1994). Prenatal diagnosis in the 1990s. JOGNN, 23(6) Rankin, Reimer & Then revised edition. NURS 461 Pathophysiology, University of Calgary

13 Unit 13 Genetic Abnormailities 13 Checklist of Requirements Read Print Companion: Genetic Abnormalities Read McCance & Huether, pp. 115, , , , Learning Activity #1: Self-Assessment Question Learning Activity #2: Case Study Learning Activity #3: Post Test

14 14 Unit 13 Genetic Abnormalities Answers to Learning Activities Learning Activity #1: Self Assessment 1. Genes determine the types of proteins and enzymes that are made by the cells, and they control inheritance and the day to day function of all the cells in the body. 2. a. Chromatin is the DNA molecule combined with several types of protein and small amounts of RNA. During cell division the chromatin coils and folds over to form chromosomes. (see McCance & Huether, p. 114). b. Gene expression is a term used to refer to the degree to which a gene or particular group of genes is active. Gene expression is controlled by induced and repressor substances. c. The genotype of an individual is a term for the genetic information stored in the base sequence triplet code (see McCance & Huether, 2001, p. 132). d. The phenotype refers to the recognizable traits, physical or biochemical, that are associated with a specific genotype. 3. These are all so called single gene disorders. In autosomal dominant disorders, an affected parent has a single mutant gene that is transmitted to the child regardless of sex. In autosomal recessive disorders, both parents are usually unaffected, but are carriers for the defective gene. The disorder affects children of both sexes. The most common pattern of inheritance in X-linked recessive disorders is seen in an unaffected mother who carries one normal and one mutant allele on the X-chromosome (see pp. 133, 139). 4. Chromosome disorders involve a change in chromosome number or structure that results in damage to sensitive genetic mechanisms or in reproductive disorders. Examples include Turner s syndrome (monosomy of the X chromosome), Trisomy 21 (Down s syndrome) which refers to polysomy of autosomes 21, and Polysomy X (Klinefelter s syndrome) characterized by an extra X chromosome in a male (X/X/Y). Rankin, Reimer & Then revised edition. NURS 461 Pathophysiology, University of Calgary

15 Unit 13 Genetic Abnormailities 15 Learning Activity #3: Post Test C Tays-Sachs disease. An autosomnal recessive disease which is very common among people of Jewish ancestry (see McCance & Huether, 2001 p. 578). B Neurofibromatosis. An autosomal dominant disorder noted for variable expressivity (see McCance & Huether, 2001 pp ). B Huntington disease. An autosomal dominant disorder noted for delayed age of onset (see McCance & Huether, 2001 p. 144). D Hemophilia. A type of recessive single gene inheritance which is X-linked (see McCance & Huether, 2001 pp ). A Prader-Willi syndrome. Deletion of part of chromosome 15 from the father (see McCance & Huether, 2001 p. 136). E Cleft lip and palate. Usually caused by multiple factors, genetic and non-genetic (see McCance & Huether, 2001 pp ). A Down s syndrome. Three copies of chromosome 21 (see McCance & Huether, 2001 pp ). D Duchenne muscular dystrophy. A type of single gene inheritance which is x-linked (see McCance & Huether, (2001 pp ; ; ). E Menigiocele. A type of neural tube defect which results when the threshold of lability is crossed through a combination of genetic and environmental influences e.g. folic acid deficiency (see McCance & Huether, 2001 pp ).

I. Types of Genetic Disorders

I. Types of Genetic Disorders I. Types of Genetic Disorders Sex-Linked Disorders Diseases caused by alleles on sex chromosomes Autosomal Dominant Diseases caused by dominant alleles Autosomal Recessive Diseases caused by recessive

More information

Prenatal Testing and Genetic Counseling

Prenatal Testing and Genetic Counseling (503) 652-8076 www.vivantemidwifery.com Prenatal Testing and Genetic Counseling Every parent hopes to have a healthy child. The good news is that most babies are born healthy. However, there are occasions

More information

Heredity and Prenatal Development: Chapter 3

Heredity and Prenatal Development: Chapter 3 Genetics 1 DEP 4053 Christine L. Ruva, Ph.D. Heredity and Prenatal Development: Chapter 3 PRINCIPLES OF HEREDITARY TRANSMISSION Genotype Phenotype Chromosomes: in the nucleus of the cell store and transmit

More information

Chapter 24 Genetics and Genomics

Chapter 24 Genetics and Genomics Chapter 24 Genetics and Genomics Genetics study of inheritance of characteristics Genome complete set of genetic instructions Genomics field in which the body is studied in terms of multiple, interacting

More information

Understanding Genetic Testing

Understanding Genetic Testing Understanding Genetic Testing Vancouver General Hospital Adult Metabolic Diseases Clinic Level 4 2775 Laurel Street Vancouver, BC V5Z 1M9 Tel: 604 875 5965 Table of Contents What is a Gene? 3 What are

More information

Multiple Choice Write the letter that best answers the question or completes the statement on the line provided.

Multiple Choice Write the letter that best answers the question or completes the statement on the line provided. Chapter 14 The Human Genome Chapter Test A Multiple Choice Write the letter that best answers the question or completes the statement on the line provided. 1. Which of the following are shown in a karyotype?

More information

Genetic Screening and Testing During Pregnancy

Genetic Screening and Testing During Pregnancy Genetic Screening and Testing During Pregnancy While most babies are born healthy and without birth defects, approximately 3-5% of all babies are born with a birth defect. Some of these babies will have

More information

Section 1 Chromosomes and Inheritance. Section 2 Human Genetics. Resources

Section 1 Chromosomes and Inheritance. Section 2 Human Genetics. Resources How to Use This Presentation To View the presentation as a slideshow with effects select View on the menu bar and click on Slide Show. To advance through the presentation, click the right-arrow key or

More information

Influences on Birth Defects

Influences on Birth Defects Influences on Birth Defects FACTS About 150,000 babies are born each year with birth defects. The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There

More information

BIOLOGY I Study Guide # 5: Topic Genetics 1

BIOLOGY I Study Guide # 5: Topic Genetics 1 BIOLOGY I Study Guide # 5: Topic Genetics 1 Biology Textbook pg. 262 285, 340-365 Name: I. Mendelian Genetics (pg. 263 272) Define: a. genetics: b. fertilization: c. true-breeding: d. trait: e. hybrid:

More information

What are genetic disorders?

What are genetic disorders? What are genetic disorders? A disease caused by abnormalities in an individual s genetic material (genome) There are four types of genetic disorders 1. Single-gene (also called Mendelian or monogenic)

More information

Thank you for making a reproductive genetic counseling appointment at the Mount Sinai Medical Center.

Thank you for making a reproductive genetic counseling appointment at the Mount Sinai Medical Center. Division of Medical Genetics Department of Genetics and Genomic Sciences Mailing address: One Gustave L. Levy Place, Box 1497 New York, NY 10029-6574 Patient Address: 1428 Madison Avenue (at 99th Street)

More information

Lab 5: Human Genetic Disorders

Lab 5: Human Genetic Disorders Lab 5: Human Genetic Disorders Adapted from Learn.Genetics http://learn.genetics.utah.edu/content/disorders/whataregd/ and Bio10 Laboratory Activities by V. Annen A genetic disorder is a disease that is

More information

Genetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes.

Genetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Genetic Mutations Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Agenda Warm UP: What is a mutation? Body cell? Gamete? Notes on Mutations Karyotype Web Activity

More information

14-1 Notes. Human Heredity

14-1 Notes. Human Heredity 14-1 Notes Human Heredity Human Chromosomes Biologists can make a karyotype by cutting chromosomes out of photographs. There are 46 total chromosomes in a human body cell 23 from a haploid sperm 23 from

More information

GENETICS QUESTIONNAIRE & CONSENT FORM

GENETICS QUESTIONNAIRE & CONSENT FORM Name (F) Name (M) GENETICS QUESTIONNAIRE & CONSENT FORM DOB: DOB: ***Please answer the following questions about yourself, your partner and your related family members with as much detail as possible.

More information

Obstetrical Ultrasound and Prenatal Diagnostic Center

Obstetrical Ultrasound and Prenatal Diagnostic Center Obstetrical Ultrasound and Prenatal Diagnostic Center Prenatal Diagnosis: Options and Opportunities Learn about various screening options including Early Risk Assessment (ERA), now available to women of

More information

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What does the career involve? Explore family histories to identify risks Reducing risks

More information

The correct answer is c A. Answer a is incorrect. The white-eye gene must be recessive since heterozygous females have red eyes.

The correct answer is c A. Answer a is incorrect. The white-eye gene must be recessive since heterozygous females have red eyes. 1. Why is the white-eye phenotype always observed in males carrying the white-eye allele? a. Because the trait is dominant b. Because the trait is recessive c. Because the allele is located on the X chromosome

More information

GENETICS LABORATORIES GENETICS LABORATORIES. Prenatal Chromosomal Microarray

GENETICS LABORATORIES GENETICS LABORATORIES. Prenatal Chromosomal Microarray GENETICS LABORATORIES GENETICS LABORATORIES Prenatal Chromosomal Microarray Many couples face important decisions regarding the type of prenatal testing they wish to have for their current pregnancy. For

More information

Section 14 1 Human Heredity (pages )

Section 14 1 Human Heredity (pages ) Chapter 14 The Human Genome Section 14 1 Human Heredity (pages 341 348) How is sex determined? How do small changes in DNAcause genetic disorders? Human Chromosomes (pages 341 342) 1. How do biologists

More information

Congenital and Genetic Disorders. Review of Genetic Control. Human Karyotype BIO 375. Pathophysiology

Congenital and Genetic Disorders. Review of Genetic Control. Human Karyotype BIO 375. Pathophysiology Congenital and Genetic Disorders BIO 375 Pathophysiology Review of Genetic Control Genetic information for each cell is stored on chromosomes: Each body cell contains 2 sets (diploid) of chromosomes; one

More information

Chapter 2. Scientific basis

Chapter 2. Scientific basis 7 Chapter 2 Scientific basis What genes are 2.1 The inheritance of all our characteristics, including susceptibility to genetic diseases, is dependent on genes and chromosomes. Genes are large molecules

More information

A. Multiple alleles B. Polygenic traits C. Incomplete dominance D. Autosomal inheritance

A. Multiple alleles B. Polygenic traits C. Incomplete dominance D. Autosomal inheritance 1. When neither allele is dominant, so that a heterzygote has a phenotype that is a blending of each of the homozygous phenotypes (such as one red color allele and one white color allele producing pink

More information

Inheritance and the muscular dystrophies

Inheritance and the muscular dystrophies Inheritance and the muscular dystrophies This leaflet provides a brief summary of the genetics of the muscular dystrophies. An understanding of their inheritance patterns makes it possible for families

More information

Heredity and Environment

Heredity and Environment 3 CHAPTER Heredity and Environment Chapter Preview Much is determined at the moment of conception, when a sperm and ovum unite to initiate the developmental processes that will culminate in the birth of

More information

Human Mendelian Disorders. Genetic Technology. What is Genetics? Genes are DNA 9/3/2008. Multifactorial Disorders

Human Mendelian Disorders. Genetic Technology. What is Genetics? Genes are DNA 9/3/2008. Multifactorial Disorders Human genetics: Why? Human Genetics Introduction Determine genotypic basis of variant phenotypes to facilitate: Understanding biological basis of human genetic diversity Prenatal diagnosis Predictive testing

More information

Genetic Disorders. Things Can Go Wrong With DNA and Chromosomes

Genetic Disorders. Things Can Go Wrong With DNA and Chromosomes Genetic Disorders Things Can Go Wrong With DNA and Chromosomes I. Overview of DNA Structure A. Review 1. A gene is a segment of DNA that codes for a particular protein 2. Proteins determine the physical

More information

Multiple Choice Review Mendelian Genetics & Inheritance Patterns

Multiple Choice Review Mendelian Genetics & Inheritance Patterns Multiple Choice Review Mendelian Genetics & 1. Jean-Baptiste Lamarck introduced a theory about inheritance in the early 1800s. Which of the following accurately describes his Theory of Acquired Characteristics?

More information

Genetics Review for USMLE (Part 2)

Genetics Review for USMLE (Part 2) Single Gene Disorders Genetics Review for USMLE (Part 2) Some Definitions Alleles variants of a given DNA sequence at a particular location (locus) in the genome. Often used more narrowly to describe alternative

More information

Marrying a relative. Is there an increased chance that a child will have genetic problems if its parents are related to each other?

Marrying a relative. Is there an increased chance that a child will have genetic problems if its parents are related to each other? Marrying a relative Is there an increased chance that a child will have genetic problems if its parents are related to each other? The simple answer to this question is Yes, there is an increased chance.

More information

This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive.

This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive. 11111 This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive. In summary Genes contain the instructions for

More information

Genetics. Genetics Disorders

Genetics. Genetics Disorders Genetics Nsg 3027 Women s Health Introduction Genetic disorders occur approximately 1 in 20 or 30% of pediatric admissions National Health Care Goals: Increase prenatal screening to 90% of pregnancies.

More information

PGD: Preimplantation Genetic Diagnosis

PGD: Preimplantation Genetic Diagnosis Testing on Embryo PGD, PND Mohammad Keramatipour MD, PhD Keramatipour@tums.ac.ir Testing on Embryos Pre-implantation Genetic Diagnosis (PGD) Early embryo Pre-natal Diagnosis (PND) First trimester Second

More information

Chromosomes, Mapping, and the Meiosis Inheritance Connection

Chromosomes, Mapping, and the Meiosis Inheritance Connection Chromosomes, Mapping, and the Meiosis Inheritance Connection Carl Correns 1900 Chapter 13 First suggests central role for chromosomes Rediscovery of Mendel s work Walter Sutton 1902 Chromosomal theory

More information

The more varied population is older because the mtdna has had more time to accumulate mutations.

The more varied population is older because the mtdna has had more time to accumulate mutations. Practice problems (with answers) This is the degree of difficulty of the questions that will be on the test. This is not a practice test because I did not consider how long it would take to finish these

More information

c. Law of Independent Assortment: Alleles separate and do not have an effect on another allele.

c. Law of Independent Assortment: Alleles separate and do not have an effect on another allele. Level Genetics Review KEY Describe the 3 laws that Gregor Mendel established after working with pea plants. a. Law of Dominance: states that the effect of a recessive allele is not observed when a dominant

More information

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.

Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father. AP Psychology 2.2 Behavioral Genetics Article Chromosomal Abnormalities About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes.

More information

Prenatal Diagnosis Program

Prenatal Diagnosis Program Prenatal Diagnosis Program Prenatal Screenings and Diagnosis What is prenatal diagnosis? Prenatal diagnosis refers to the use of one or more tests to determine if a developing baby has a problem before

More information

Gene Therapy and Genetic Counseling. Chapter 20

Gene Therapy and Genetic Counseling. Chapter 20 Gene Therapy and Genetic Counseling Chapter 20 What is Gene Therapy? Treating a disease by replacing, manipulating or supplementing a gene The act of changing an individual s DNA sequence to fix a non-functional

More information

Mendelian inheritance and the

Mendelian inheritance and the Mendelian inheritance and the most common genetic diseases Cornelia Schubert, MD, University of Goettingen, Dept. Human Genetics EUPRIM-Net course Genetics, Immunology and Breeding Mangement German Primate

More information

Appendix A. Examples of homework, quiz and exam questions that address Learning Goal 1. A. Examples of homework questions (Learning Goal 1)

Appendix A. Examples of homework, quiz and exam questions that address Learning Goal 1. A. Examples of homework questions (Learning Goal 1) Appendix A. Examples of homework, quiz and exam questions that address Learning Goal 1. A. Examples of homework questions (Learning Goal 1) 1. Shared questions on homeworks for both majors and non majors.

More information

Scientists use observable evidence to direct their questions about phenomena. For which question would the karyotype provide the most evidence?

Scientists use observable evidence to direct their questions about phenomena. For which question would the karyotype provide the most evidence? 1. A karyotype shows the visual appearance of an individual s chromosomes. The karyotype below shows the chromosomes of a person with a genetic disorder. Scientists use observable evidence to direct their

More information

MCB41: Second Midterm Spring 2009

MCB41: Second Midterm Spring 2009 MCB41: Second Midterm Spring 2009 Before you start, print your name and student identification number (S.I.D) at the top of each page. There are 7 pages including this page. You will have 50 minutes for

More information

Introduction to Medical Genetics. 1. Introduction to Medical Genetics

Introduction to Medical Genetics. 1. Introduction to Medical Genetics Introduction to Medical Genetics 1 2 1: Introduction 2: Chromosomes and chromosome abnormalities 3: Single gene disorders 4: Polygenic Disorders 5: Mutation and human disease 6: Genes in Populations 7:

More information

INCOMPLETE DOMINANCE

INCOMPLETE DOMINANCE DOMINANCE INCOMPLETE DOMINANCE Pattern of gene expression in which the phenotype of a heterozygous individual is intermediate between those of the parents. Cases in which one allele is not completely dominant

More information

Non-invasive Prenatal Testing Information for patients

Non-invasive Prenatal Testing Information for patients Non-invasive Prenatal Testing Information for patients Pregnancy is one of the most significant episodes in anyone s life for you (the pregnant woman), your partner and your child. Pregnancy can raise

More information

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD

LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns

More information

Chapter 15: The Chromosomal Basis of Inheritance

Chapter 15: The Chromosomal Basis of Inheritance Name Period Chapter 15: The Chromosomal Basis of Inheritance Concept 15.1 Mendelian inheritance has its physical basis in the behavior of chromosomes 1. What is the chromosome theory of inheritance? The

More information

A Guide to Prenatal Genetic Testing

A Guide to Prenatal Genetic Testing Patient Education Page 29 A Guide to Prenatal Genetic Testing This section describes prenatal tests that give information about your baby s health. It is your choice whether or not to have these tests

More information

A trait is a variation of a particular character (e.g. color, height). Traits are passed from parents to offspring through genes.

A trait is a variation of a particular character (e.g. color, height). Traits are passed from parents to offspring through genes. 1 Biology Chapter 10 Study Guide Trait A trait is a variation of a particular character (e.g. color, height). Traits are passed from parents to offspring through genes. Genes Genes are located on chromosomes

More information

PATIENT EDUCATION. carrier screening INFORMATION

PATIENT EDUCATION. carrier screening INFORMATION PATIENT EDUCATION carrier screening INFORMATION carrier screening AT A GLANCE Why is carrier screening recommended? Carrier screening is one of many tests that can help provide information to you and your

More information

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:

More information

Noninvasive prenatal screen for pregnancy

Noninvasive prenatal screen for pregnancy Noninvasive prenatal screen for pregnancy What is QNatal TM Advanced Noninvasive Prenatal Screening? The QNatal Advanced prenatal screen is a noninvasive test that provides a high degree of accuracy for

More information

Science 103: Practice Questions for Exam 3

Science 103: Practice Questions for Exam 3 Science 103: Practice Questions for Exam 3 SHORT ANSWER QUESTIONS: 1. An individual lost his father to Huntington s disease. His mother is healthy and in her 60 s. (a) What is the probability that the

More information

The Developing Person Through the Life Span 8e by Kathleen Stassen Berger

The Developing Person Through the Life Span 8e by Kathleen Stassen Berger The Developing Person Through the Life Span 8e by Kathleen Stassen Berger Chapter 3 Heredity and Environment PowerPoint Slides developed by Martin Wolfger and Michael James Ivy Tech Community College-Bloomington

More information

Genetics 1 by Drs. Scott Poethig, Ingrid Waldron, and. Jennifer Doherty, Department of Biology, University of Pennsylvania, Copyright, 2011

Genetics 1 by Drs. Scott Poethig, Ingrid Waldron, and. Jennifer Doherty, Department of Biology, University of Pennsylvania, Copyright, 2011 Genetics 1 by Drs. Scott Poethig, Ingrid Waldron, and. Jennifer Doherty, Department of Biology, University of Pennsylvania, Copyright, 2011 We all know that children tend to resemble their parents in appearance.

More information

GENETIC COUNSELING AND PRENATAL TESTING

GENETIC COUNSELING AND PRENATAL TESTING GENETIC COUNSELING AND PRENATAL TESTING Every parent hopes to have a healthy child. The good news is most babies are born healthy. However, sometimes a genetic disease or birth defect may occur. If your

More information

Chromosomes, Mapping, and the Meiosis-Inheritance Connection. Chapter 13. Chromosome Theory

Chromosomes, Mapping, and the Meiosis-Inheritance Connection. Chapter 13. Chromosome Theory Chromosomes, Mapping, and the Meiosis-Inheritance Connection Chapter 13 Chromosome Theory Chromosomal theory of inheritance - developed in 1902 by Walter Sutton - proposed genes present on chromosomes

More information

Inheritance Patterns and Human Genetics. Chapter 12. Table of Contents. Section 1 Chromosomes and Inheritance Section 2 Human Genetics

Inheritance Patterns and Human Genetics. Chapter 12. Table of Contents. Section 1 Chromosomes and Inheritance Section 2 Human Genetics Inheritance Patterns and Human Genetics Table of Contents Section 1 Chromosomes and Inheritance Section 1 Chromosomes and Inheritance Objectives Distinguish between sex chromosomes and autosomes. Explain

More information

Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota

Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota The information provided by speakers in workshops, forums, sharing/networking

More information

GENETIC DISORDER RESEARCH POWER POINT PROJECT

GENETIC DISORDER RESEARCH POWER POINT PROJECT GENETIC DISORDER RESEARCH POWER POINT PROJECT A Collaborative Research Project Based on the California State Standards in Biology Grades 9-12 Claire Carey Santa Barbara High School UCSB RET II 06 Carey

More information

Abnormalities of Chromosome Structure

Abnormalities of Chromosome Structure Abnormalities of Chromosome Structure Structural rearrangements result from chromosome breakage, followed by reconstitution in an abnormal combination. Whereas rearrangements can take place in many ways,

More information

About The Causes of Hearing Loss

About The Causes of Hearing Loss About 1 in 500 infants is born with or develops hearing loss during early childhood. Hearing loss has many causes: some are genetic (that is, caused by a baby s genes) or non-genetic (such as certain infections

More information

Genetic Testing in Research & Healthcare

Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research and Healthcare Human genetic testing is a growing science. It is used to study genes

More information

Biology Homework Chapter 8: Heredity and Genetic Variation

Biology Homework Chapter 8: Heredity and Genetic Variation Biology Homework Chapter 8: Heredity and Genetic Variation Answer the questions with complete thoughts and complete sentences! * Sections 8.1 and 8.3: The hereditary Role of Genetic material. Read pages

More information

Preimplantation Genetic Diagnosis. Evaluation for single gene disorders

Preimplantation Genetic Diagnosis. Evaluation for single gene disorders Preimplantation Genetic Diagnosis Evaluation for single gene disorders What is Preimplantation Genetic Diagnosis? Preimplantation genetic diagnosis or PGD is a technology that allows genetic testing of

More information

Ch. 15: Chromosomal Abnormalities

Ch. 15: Chromosomal Abnormalities Ch 15: Chromosomal Abnormalities Abnormalities in Chromosomal Number Abnormalities in Chromosomal Structure: Rearrangements Fragile Sites Define: nondisjunction polyploidy aneupoidy trisomy monosomy Abnormalities

More information

CCR Biology - Chapter 7 Practice Test - Summer 2012

CCR Biology - Chapter 7 Practice Test - Summer 2012 Name: Class: Date: CCR Biology - Chapter 7 Practice Test - Summer 2012 Multiple Choice Identify the choice that best completes the statement or answers the question. 1. A person who has a disorder caused

More information

A Patient Counseling Guide for Reproductive Genetics. Educational content provided by

A Patient Counseling Guide for Reproductive Genetics. Educational content provided by A Patient Counseling Guide for Reproductive Educational content provided by Table of contents 3 12 37 44 51 54 57 This Counseling Guide is intended to offer health care providers basic information on genetic

More information

CHROMOSOMAL DISORDERS

CHROMOSOMAL DISORDERS CHROMOSOMAL DISORDERS LEARNING OBJECTIVES Describe the normal karyotype Define various types of structural abnormalities of chromosmes including: Deletion,Ring chromosome,inversion, isochromosome and translocations

More information

Chapter 19. Prenatal Development and Birth

Chapter 19. Prenatal Development and Birth Chapter 19 Prenatal Development and Birth Lesson 1 The Beginning of the Life Cycle 1. Define the following terms. Fertilization The union of the male sperm and female egg. Implantation Zygote attaches

More information

Information for Your Patients

Information for Your Patients Information for Your Patients What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test offered to women

More information

Specialty Rotation: Genetics and Inborn Errors of Metabolism at SUNY (NYS IBR, KCHC, UHB)

Specialty Rotation: Genetics and Inborn Errors of Metabolism at SUNY (NYS IBR, KCHC, UHB) Specialty Rotation: Genetics and Inborn Errors of Metabolism at SUNY (NYS IBR, KCHC, UHB) Residents: Residents at the PL1, PL2 or PL3 level. Prequisites: none. Primary Goals for this Rotation GOAL: Prevention,

More information

Mr and Mrs Brown do not have cystic fibrosis but they have a child with cystic fibrosis.

Mr and Mrs Brown do not have cystic fibrosis but they have a child with cystic fibrosis. Q. Cystic fibrosis is an inherited disorder. Mr and Mrs Brown do not have cystic fibrosis but they have a child with cystic fibrosis. (a) Draw a ring around the correct answer to complete each sentence.

More information

Genetic and Developmental Diseases

Genetic and Developmental Diseases Genetic and Developmental Diseases Course Pathophysiology Unit VII Pathology Across the Life Span Essential Question What effect do genes have on the cause of disease? TEKS 130.208 (c) 4A,C 6A,B,E 7B Prior

More information

Our understanding of Mendelian inheritance in humans is based on the analysis of family pedigrees or the results of mating that have already occurred.

Our understanding of Mendelian inheritance in humans is based on the analysis of family pedigrees or the results of mating that have already occurred. Advanced Biology Notes: Human Disorder Pedigree analysis: Our understanding of Mendelian inheritance in humans is based on the analysis of family pedigrees or the results of mating that have already occurred.

More information

Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics

Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics Session # : 46 Day/Time: Friday, May 1, 2015, 1:00 4:00 pm Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics Presenter: Kathleen S. Arnos, PhD, Gallaudet University This presentation

More information

TRISOMY 3 COPIES OF A SINGLE CHROMOSOME

TRISOMY 3 COPIES OF A SINGLE CHROMOSOME ANEUPLOIDY Having too many or too few chromosomes compared to a normal genotype Aneuploid organisms have unbalanced sets of chromosomes due to an excess or deficiency of individual chromosomes This creates

More information

Time Estimate for Entire Lab: 1.5 hours

Time Estimate for Entire Lab: 1.5 hours Laboratory 17 Human Genetics (LM pages 231 242) Time Estimate for Entire Lab: 1.5 hours Seventh Edition Changes This was lab 16 in the previous edition. New or revised figures: 17.1 Preparation of karyotypes;

More information

A Chromosome Study. Karyotype

A Chromosome Study. Karyotype A Chromosome Study In this activity, you will create a karyotype from a page of mixed chromosomes. Karyotypes are created by matching homologous pairs and numbering them from largest to smallest. Abnormalities,

More information

THE STEPS WHEN INTERPRETING A PEDIGREE CHART

THE STEPS WHEN INTERPRETING A PEDIGREE CHART THE STEPS WHEN INTERPRETING A PEDIGREE CHART Determine if the pedigree chart shows an autosomal or X- linked disease. If most of the males in the pedigree are affected, then the disorder is X-linked If

More information

Routine Tests In Pregnancy

Routine Tests In Pregnancy Routine Tests In Pregnancy During pregnancy, all women have certain routine lab tests. These tests can help your doctor detect possible problems with your health and your baby's health. You also may have

More information

Chapter 18. Genes and Medical Genetics

Chapter 18. Genes and Medical Genetics 1 Chapter 18 Genes and Medical Genetics 2 1 Outline Genotype vs. Phenotype Dominant vs. Recessive Traits Punnett Squares Autosomal Recessive Disorders Autosomal Dominant Disorders Pedigree Charts Multiple

More information

Maharashtra University of Health Sciences, Nashik. Syllabus. Certificate Course in Medical Genetics

Maharashtra University of Health Sciences, Nashik. Syllabus. Certificate Course in Medical Genetics Maharashtra University of Health Sciences, Nashik Syllabus Certificate Course in Medical Genetics Title of the Course: Duration of course : Certificate Course in Medical Genetics Six Months Aims, Objectives

More information

Testing for Chromosome Abnormalities

Testing for Chromosome Abnormalities Testing for Chromosome Abnormalities Congratulations on your pregnancy! While most babies are born healthy, approximately 3-5% will be affected with certain birth defects or genetic conditions. In all

More information

Reproductive Endocrinology and Infertility

Reproductive Endocrinology and Infertility Reproductive Endocrinology and Infertility John A. Schnorr, M.D Michael J. Slowey, M.D. 1375 Hospital Drive Mount Pleasant, SC 29464 Phone: 843-883-5800 Fax: 843-606-3937 www.coastalfertilityspecialists.com

More information

PRENATAL ... G enetic Testing Program at Penn. Penn Ob/Gyn Care LOCATIONS

PRENATAL ... G enetic Testing Program at Penn. Penn Ob/Gyn Care LOCATIONS 15697-PG-GOOD:1 11/10/06 5:29 PM Page 1 IF YOU HAVE QUESTIONS ABOUT PRENATAL SCREENING or would like more information, contact your obstetrician or one of our genetic counselors. Please note that not all

More information

Chromosomes and Karyotypes

Chromosomes and Karyotypes Chromosomes and Karyotypes Review of Chromosomes Super coiled DNA Structure: It may be A single coiled DNA molecule Chromosomes Or after replication, it may be two coiled DNA molecules held together at

More information

12.1 The Role of DNA in Heredity

12.1 The Role of DNA in Heredity 12.1 The Role of DNA in Heredity Only in the last 50 years have scientists understood the role of DNA in heredity. That understanding began with the discovery of DNA s structure. In 1952, Rosalind Franklin

More information

HEREDITY (B) In domestic cats, the gene for Tabby stripes (T) is dominant over the gene for no stripes (t)

HEREDITY (B) In domestic cats, the gene for Tabby stripes (T) is dominant over the gene for no stripes (t) GENETIC CROSSES In minks, a single gene controls coat color. The allele for a brown (B) coat is dominant to the allele for silver-blue (b) coats. 1. A homozygous brown mink was crossed with a silverblue

More information

The following chapter is called "Preimplantation Genetic Diagnosis (PGD)".

The following chapter is called Preimplantation Genetic Diagnosis (PGD). Slide 1 Welcome to chapter 9. The following chapter is called "Preimplantation Genetic Diagnosis (PGD)". The author is Dr. Maria Lalioti. Slide 2 The learning objectives of this chapter are: To learn the

More information

Genetics. The connection between Gene expression and Genetics. Genotype is the genetic make up of an organism (gene), which codes for a protein.

Genetics. The connection between Gene expression and Genetics. Genotype is the genetic make up of an organism (gene), which codes for a protein. Genetics The connection between Gene expression and Genetics Genotype is the genetic make up of an organism (gene), which codes for a protein. The protein has a specific function which produces a trait.

More information

6/2/2015. (Sperm could also be XY)

6/2/2015. (Sperm could also be XY) Chapter 6 Genetics and Inheritance Sometimes there is not one clear dominant allele In a heterozygous individual, both alleles are expressed Phenotype is a blend of both traits Lecture 2: Genetics and

More information

Optional Tests Offered Before and During Pregnancy

Optional Tests Offered Before and During Pregnancy Plano Women s Healthcare Optional Tests Offered Before and During Pregnancy Alpha-Fetoprotein Test (AFP) and Quad Screen These are screening tests that can assess your baby s risk of having such birth

More information

CHROMOSOMES AND INHERITANCE

CHROMOSOMES AND INHERITANCE SECTION 12-1 REVIEW CHROMOSOMES AND INHERITANCE VOCABULARY REVIEW Distinguish between the terms in each of the following pairs of terms. 1. sex chromosome, autosome 2. germ-cell mutation, somatic-cell

More information

Collated questions Demonstrate understanding of biological ideas relating to genetic variation DNA STRUCTURE

Collated questions Demonstrate understanding of biological ideas relating to genetic variation DNA STRUCTURE Collated questions Demonstrate understanding of biological ideas relating to genetic variation DNA STRUCTURE THE ROLE OF DNA IN INHERITANCE (2013:2) (a) Use the diagram above to help you explain the relationship

More information

Genetics Copyright, 2009, by Dr. Scott Poethig, Dr. Ingrid Waldron, and Jennifer Doherty Department of Biology, University of Pennsylvania 1

Genetics Copyright, 2009, by Dr. Scott Poethig, Dr. Ingrid Waldron, and Jennifer Doherty Department of Biology, University of Pennsylvania 1 Genetics Copyright, 2009, by Dr. Scott Poethig, Dr. Ingrid Waldron, and Jennifer Doherty Department of Biology, University of Pennsylvania 1 We all know that children tend to resemble their parents in

More information

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER

Patient Education. intermountainhealthcare.org. A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Patient Education intermountainhealthcare.org A Guide to Prenatal Testing LIVING AND LEARNING TOGETHER Most news is good news. Most babies are born without major birth defects. Early in your pregnancy,

More information

Reciprocal Translocations

Reciprocal Translocations Reciprocal Translocations Information for patients What are Chromosomes? We are all made up of tiny building blocks called cells. These cells are controlled by information stored in long thin strands of

More information