Sex Linked / "X" Linked Genetics
|
|
- Simon Pope
- 7 years ago
- Views:
Transcription
1 Sex Linked / "X" Linked Genetics Sex Linked : Sex chromosome abnormalities may also be caused by nondisjunction of one or more sex chromosomes. Any combination (up to XXXXY) produces maleness. Males with more than one X are usually underdeveloped and sterile. XXX and X women are known, although in most cases they are sterile. Nondisjunction can also occur with AUTOSOMAL CHROMOSOMES. Where there is an additional or loss of a chromosome numbered 1 through 22. An example of this is Down syndrome where there is a additional chromosome number 21. Syndrome = Group of disorders are expressed. Many individuals in the population have the disorder. The actual cause is not known, however correlational studies have shown that maternal age may be linked with the disorder. 1
2 Karyotype = Illustration or photograph of the chromosomes in the nucleus of a somatic cell in an organism. Below is an the karyotype for an individual with down syndrome. Trisomy: condition where every somatic cell has an additional chromosome. Monosomy: condition where every somatic cell expresses the loss of a single chromosome. 2
3 Deletion: Portion of the chromosome is lost. How does this occur? chemicals viruses Cri du chat Disorder: Loss of a portion of chromosome 5 > Child is born with abnormalities in facial construction and mentally handicapped. Duplication Loss of a portion of chromosome 5 > Child is born with abnormalities in facial construction and mentally handicapped. 3
4 Cystic Fibrosis Cystic fibrosis (CF) is caused by a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene makes a protein that controls the movement of salt and water in and out of the cells in your body. In people with CF, the gene does not work effectively. This causes the thick, sticky mucus and very salty sweat that are the main features of CF. Carriers of a defective allele for the CFTR gene usually have no symptoms. Therefore, it is caused by recessive inheritance. Muscular Dystrophy There are several forms of this disease and they all involve the wasting away of muscle tissue. The most common form is Duchenne muscular dystrophy, which is caused by X linked recessive inheritance. Muscle cells engorge with fat and connective tissue deposits and eventually waste away. Symptoms start to develop between the ages of two and six. Their muscles begin to weaken and eventually the muscles associated with the lungs weaken leading to respiratory failure. 4
5 In mitosis or meiosis, there can be an error in the processes that results in the change in the Number of Chromosomes that the daughter cells receive. There of two types of this error condition: *Aneuploidy the gain or loss of whole chromosomes (this is the most common chromosome abnormality). It is caused by nondisjunction, the failure of chromosomes to correctly separate. Examples include: o Downs Syndrome (extra chromosome #21) o Turner Syndrome (only one X chromosome in a female) o Klinefelter Syndrome (extra X chromosome in a male) * Polyploidy is a condition of having too many sets (pairs) of chromosomes. For example, having one pair of a chromosome makes a cell diploid (2n), while having two pairs of a chromosome makes a cell that is tetraploid (4n) Nondisjunction: the failure of replicated chromosomes to segregate during Anaphase II. Both environmental and genetic factors have roles in the development of any disease. A genetic disorder is a disease caused by abnormalities in an individual s genetic material / DNA (genome). There are four different types of genetic disorders: 1. single gene 2. polygenic (multiple genes) 3. chromosomal (i.e. trisomy) 4. mitochondrial (relatively rare caused by mutations in the non chromosomal DNA of mitochondria) The normal function of a gene is to encode a protein, not cause illness. 5
6 Prenatal Testing for A person with a family history of genetic disorders may wish to undergo genetic screening before becoming a parent. Genetic screening is an examination of a person s genetic makeup. It may involve constructing a karyotype, a picture of an individual s chromosomes grouped in pairs and arranged in sequence. Prenatal Testing for Couples at risk for having children with genetic disorders may wish to undergo genetic counselling, a form of medical guidance that informs them about problems that could affect their offspring. Physicians can diagnose more than 200 genetic disorders in the fetus using a variety of tools and techniques. 1. Amniocentesis 2. Chorionic Villi Sampling 6
7 Prenatal Testing for During amniocentesis the physician removes a small amount of amniotic fluid from the amnion, the sac that surrounds the fetus, between the fourteenth and sixteenth weeks of pregnancy. Fetal cells and proteins from the fluid then can be analyzed and a karyotype can also be prepared. Prenatal Testing for During chorionic villi sampling the physician obtains a sample of the chorionic villi, a tissue that grows between the mother s uterus and the placenta, between the eighth and tenth week of pregnancy. The villi have the same genetic makeup as the fetus because they were both coded for by fetal DNA. Tissue samples from the villi can be used to produce a karyotype. 7
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 information4.2 Meiosis. Meiosis is a reduction division. Assessment statements. The process of meiosis
4.2 Meiosis Assessment statements State that meiosis is a reduction division of a diploid nucleus to form haploid nuclei. Define homologous chromosomes. Outline the process of meiosis, including pairing
More informationCHROMOSOMES 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 information12.1 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 informationThe 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 informationChromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome.
Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome. Define the terms karyotype, autosomal and sex chromosomes. Explain how many of
More informationChromosomes, 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 informationThis 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 informationUNIT 13 (OPTION) Genetic Abnormalities
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
More informationWhat 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 informationEach 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 informationA test your patients can trust.
A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate
More informationwww.njctl.org PSI Biology Mitosis & Meiosis
Mitosis and Meiosis Mitosis Classwork 1. Identify two differences between meiosis and mitosis. 2. Provide an example of a type of cell in the human body that would undergo mitosis. 3. Does cell division
More informationBio EOC Topics for Cell Reproduction: Bio EOC Questions for Cell Reproduction:
Bio EOC Topics for Cell Reproduction: Asexual vs. sexual reproduction Mitosis steps, diagrams, purpose o Interphase, Prophase, Metaphase, Anaphase, Telophase, Cytokinesis Meiosis steps, diagrams, purpose
More informationHeredity - Patterns of Inheritance
Heredity - Patterns of Inheritance Genes and Alleles A. Genes 1. A sequence of nucleotides that codes for a special functional product a. Transfer RNA b. Enzyme c. Structural protein d. Pigments 2. Genes
More informationBasic Human Genetics: Reproductive Health and Chromosome Abnormalities
Basic Human Genetics: Reproductive Health and Chromosome Abnormalities Professor Hanan Hamamy Department of Genetic Medicine and Development Geneva University Switzerland Training Course in Sexual and
More informationCarrier detection tests and prenatal diagnosis
Carrier detection tests and prenatal diagnosis There are several types of muscular dystrophy and about 50 neuromuscular conditions, all of which fall under the umbrella of the Muscular Dystrophy Campaign.
More informationCHROMOSOMES 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 informationObstetrical 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 informationCystic Fibrosis. Cystic fibrosis affects various systems in children and young adults, including the following:
Cystic Fibrosis What is cystic fibrosis? Cystic fibrosis (CF) is an inherited disease characterized by an abnormality in the glands that produce sweat and mucus. It is chronic, progressive, and is usually
More information1 Mutation and Genetic Change
CHAPTER 14 1 Mutation and Genetic Change SECTION Genes in Action KEY IDEAS As you read this section, keep these questions in mind: What is the origin of genetic differences among organisms? What kinds
More informationA 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 informationName: 4. A typical phenotypic ratio for a dihybrid cross is a) 9:1 b) 3:4 c) 9:3:3:1 d) 1:2:1:2:1 e) 6:3:3:6
Name: Multiple-choice section Choose the answer which best completes each of the following statements or answers the following questions and so make your tutor happy! 1. Which of the following conclusions
More informationChapter 13: Meiosis and Sexual Life Cycles
Name Period Concept 13.1 Offspring acquire genes from parents by inheriting chromosomes 1. Let s begin with a review of several terms that you may already know. Define: gene locus gamete male gamete female
More informationThe 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 informationLEUKODYSTROPHY 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 informationMarrying 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 informationCCR 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 informationThe 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 informationHuman Chromosomes lab 5
Human Chromosomes lab 5 Objectives Upon completion of this activity, you should be able to: describe the structure of human chromosomes with reference to size, centromere position, and presence or absence
More informationBiology 1406 Exam 4 Notes Cell Division and Genetics Ch. 8, 9
Biology 1406 Exam 4 Notes Cell Division and Genetics Ch. 8, 9 Ch. 8 Cell Division Cells divide to produce new cells must pass genetic information to new cells - What process of DNA allows this? Two types
More informationSex for the purposes of this class refers to 4 components
Sex for the purposes of this class refers to 4 components Gonadal sex Gonads or where gametes are produced by meiosis Somatic sex Somatic cells are cells that undergo mitosis. They can be divided into
More informationCHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE. Section B: Sex Chromosomes
CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE Section B: Sex Chromosomes 1. The chromosomal basis of sex varies with the organism 2. Sex-linked genes have unique patterns of inheritance 1. The chromosomal
More informationChapter 8: Variation in Chromosome Structure and Number
Chapter 8: Variation in Chromosome Structure and Number Student Learning Objectives Upon completion of this chapter you should be able to: 1. Know the principles and terminology associated with variations
More informationInfluence of Sex on Genetics. Chapter Six
Influence of Sex on Genetics Chapter Six Humans 23 Autosomes Chromosomal abnormalities very severe Often fatal All have at least one X Deletion of X chromosome is fatal Males = heterogametic sex XY Females
More informationX Linked Inheritance
X Linked Inheritance Information for Patients and Families 2 X linked Inheritance The following will give you information about what X linked inheritance means and how X linked conditions are inherited.
More informationFirst Trimester Screening for Down Syndrome
First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test
More information5. The cells of a multicellular organism, other than gametes and the germ cells from which it develops, are known as
1. True or false? The chi square statistical test is used to determine how well the observed genetic data agree with the expectations derived from a hypothesis. True 2. True or false? Chromosomes in prokaryotic
More informationGenetic 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 informationPreimplantation Genetic Diagnosis (PGD) in Western Australia
Preimplantation Genetic Diagnosis (PGD) in Western Australia Human somatic cells have 46 chromosomes each, made up of the 23 chromosomes provided by the egg and the sperm cell from each parent. Each chromosome
More informationExecutive summary. Current prenatal screening
Executive summary Health Council of the Netherlands. NIPT: dynamics and ethics of prenatal screening. The Hague: Health Council of the Netherlands, 2013; publication no. 2013/34. In recent years, new tests
More informationREI Pearls: Pitfalls of Genetic Testing in Miscarriage
The Skinny: Genetic testing of miscarriage tissue is controversial and some people question if testing is helpful or not. This summary will: 1) outline the arguments for and against genetic testing; 2)
More informationOptional 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 informationChapter 4 Pedigree Analysis in Human Genetics. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning
Chapter 4 Pedigree Analysis in Human Genetics Mendelian Inheritance in Humans Pigmentation Gene and Albinism Fig. 3.14 Two Genes Fig. 3.15 The Inheritance of Human Traits Difficulties Long generation time
More informationDIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES
DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES Extracts from a review article by KN North and KJ Jones: Recent advances in diagnosis of the childhood muscular dystrophies Journal of Paediatrics and Child Health
More informationGene 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 informationyour questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.
your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal
More informationChapter 13: Meiosis and Sexual Life Cycles
Name Period Chapter 13: Meiosis and Sexual Life Cycles Concept 13.1 Offspring acquire genes from parents by inheriting chromosomes 1. Let s begin with a review of several terms that you may already know.
More informationAP Biology PowerPoint Notes Chapter 11 & 12 Patterns of Heredity and Human Genetics
AP Biology PowerPoint Notes Chapter 11 & 12 Patterns of Heredity and Human Genetics Mendelism and Genotype Genotype must be considered an integrated whole of all the genes because genes often work together
More informationFact Sheet 14 EPIGENETICS
This fact sheet describes epigenetics which refers to factors that can influence the way our genes are expressed in the cells of our body. In summary Epigenetics is a phenomenon that affects the way cells
More informationMendelian 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 informationHuman Blood Types: Codominance and Multiple Alleles. Codominance: both alleles in the heterozygous genotype express themselves fully
Human Blood Types: Codominance and Multiple Alleles Codominance: both alleles in the heterozygous genotype express themselves fully Multiple alleles: three or more alleles for a trait are found in the
More informationPreimplantation 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 informationAbout 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 informationCentral core disease
Central core disease Central core disease falls under the umbrella of congenital myopathies which are characterised by muscle weakness and wasting. It is a rare condition, and symptoms are usually present
More information*Please consult the online schedule for this course for the definitive date and time for this lecture.
CHROMOSOMES AND DISEASE Date: September 29, 2005 * Time: 8:00 am- 8:50 am * Room: G-202 Biomolecular Building Lecturer: Jim Evans 4200A Biomolecular Building jpevans@med.unc.edu Office Hours: by appointment
More informationMCB41: 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 informationNon-Invasive Prenatal Testing (NIPT) Factsheet
Introduction NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomy 21 and a few other fetal chromosomal aneuploidies.
More informationCystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program
Cystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program Introduction: Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and
More informationNational Down Syndrome Society
National Down Syndrome Society The national advocate for the value, acceptance and inclusion of people with Down syndrome What is Down Syndrome? Down syndrome is the most commonly occurring chromosomal
More informationPatient Information. for Childhood
Patient Information Genetic Testing for Childhood Hearing Loss Introduction This document describes the most common genetic cause of childhood hearing loss and explains the role of genetic testing. Childhood
More informationGene mutation and molecular medicine Chapter 15
Gene mutation and molecular medicine Chapter 15 Lecture Objectives What Are Mutations? How Are DNA Molecules and Mutations Analyzed? How Do Defective Proteins Lead to Diseases? What DNA Changes Lead to
More informationObjectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL
Objectives Role of Medical Genetics in Hearing Loss Evaluation Millan Patel, MD UBC Dept. of Medical Genetics October 22, 2010 Case presentation to illustrate importance of defining syndromic hearing loss
More informationGenetics 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 informationOverview of Genetic Testing and Screening
Integrating Genetics into Your Practice Webinar Series Overview of Genetic Testing and Screening Genetic testing is an important tool in the screening and diagnosis of many conditions. New technology is
More informationGenetic Disorder Brochure Project
Genetic Disorder Brochure Project (modified from a project found on the Robbinsdale School District website) Overview Create a tri-fold brochure for a doctor s office waiting room. The brochure should
More informationBioSci 2200 General Genetics Problem Set 1 Answer Key Introduction and Mitosis/ Meiosis
BioSci 2200 General Genetics Problem Set 1 Answer Key Introduction and Mitosis/ Meiosis Introduction - Fields of Genetics To answer the following question, review the three traditional subdivisions of
More informationTERATOGENESIS ONTOGENESIS
TERATOGENESIS ONTOGENESIS Inborn developmental defects Occured during prenatal development Are present by delivery At about 3-5 % newborns are affected. Inborn developmental defects 1. CHROMOSOMAL ABERRATIONS
More informationPRACTICE PROBLEMS - PEDIGREES AND PROBABILITIES
PRACTICE PROBLEMS - PEDIGREES AND PROBABILITIES 1. Margaret has just learned that she has adult polycystic kidney disease. Her mother also has the disease, as did her maternal grandfather and his younger
More informationThe Rh Factor: How It Can Affect Your Pregnancy
The American College of Obstetricians and Gynecologists f AQ FREQUENTLY ASKED QUESTIONS FAQ027 PREGNANCY The Rh Factor: How It Can Affect Your Pregnancy What is the Rh factor? How does a person get the
More informationUmm AL Qura University MUTATIONS. Dr Neda M Bogari
Umm AL Qura University MUTATIONS Dr Neda M Bogari CONTACTS www.bogari.net http://web.me.com/bogari/bogari.net/ From DNA to Mutations MUTATION Definition: Permanent change in nucleotide sequence. It can
More informationA test your patients can trust. A company you know and trust.
A test your patients can trust. A company you know and trust. informaseq Prenatal Test an advanced, non-invasive, prenatal screening for T21, T18, and T13 chromosomal aneuploidies using next generation
More informationCELL DIVISION. STAGES OF MITOTIC DIVISION (Diag. C1)
1 CELL DIVISION Cell division is the process by which cells replicate in order to replace cell loss, repair tissue damage and reproduce the organism. Two types of cell division are encountered in the Eukaryotic
More informationPrenatal Testing Special tests for your baby during pregnancy
English April 2006 [OTH-7750] There are a number of different prenatal (before birth) tests to check the development of your baby. Each test has advantages and disadvantages. This information is for people
More informationCell Growth and Reproduction Module B, Anchor 1
Cell Growth and Reproduction Module B, Anchor 1 Key Concepts: - The larger a cell becomes, the more demands the cell places on its DNA. In addition, a larger cell is less efficient in moving nutrients
More informationDuchenne muscular dystrophy (DMD)
Duchenne muscular dystrophy (DMD) What is Duchenne muscular dystrophy or DMD? Muscular Dystrophy is a group of inherited muscle disorders, in which muscles weaken over time. Duchenne muscular dystrophy
More information14.3 Studying the Human Genome
14.3 Studying the Human Genome Lesson Objectives Summarize the methods of DNA analysis. State the goals of the Human Genome Project and explain what we have learned so far. Lesson Summary Manipulating
More informationChromosomal Basis of Inheritance. Ch. 3
Chromosomal Basis of Inheritance Ch. 3 THE CHROMOSOME THEORY OF INHERITANCE AND SEX CHROMOSOMES! The chromosome theory of inheritance describes how the transmission of chromosomes account for the Mendelian
More informationPage 1. 1. The production of monoploid cells by spermatogenesis occurs in (1) zygotes (3) ovaries (2) testes (4) meristems
1. The production of monoploid cells by spermatogenesis occurs in (1) zygotes (3) ovaries (2) testes (4) meristems Base your answers to questions 2 and 3 on the diagram below of the female reproductive
More informationUnit 1 Higher Human Biology Summary Notes
Unit 1 Higher Human Biology Summary Notes a. Cells tissues organs body systems Division of labour occurs in multicellular organisms (rather than each cell carrying out every function) Most cells become
More informationTrisomy 13 (also called Patau s syndrome or T13)
Screening Programmes Fetal Anomaly Trisomy 13 (also called Patau s syndrome or T13) Information for parents Publication date: April 2012 Review date: April 2013 Version 2 117 Information sheet to help
More informationBiology Behind the Crime Scene Week 4: Lab #4 Genetics Exercise (Meiosis) and RFLP Analysis of DNA
Page 1 of 5 Biology Behind the Crime Scene Week 4: Lab #4 Genetics Exercise (Meiosis) and RFLP Analysis of DNA Genetics Exercise: Understanding how meiosis affects genetic inheritance and DNA patterns
More informationRigid spine syndrome (RSS) (Congenital muscular dystrophy with rigidity of the spine, including RSMD1)
Rigid spine syndrome (RSS) (Congenital muscular dystrophy with rigidity of the spine, including RSMD1) What is RSMD1? The congenital muscular dystrophies are a group of conditions which share early presentation
More informationHUMAN FERTILISATION AND EMBRYOLOGY AUTHORITY AND ADVISORY COMMITTEE ON GENETIC TESTING CONSULTATION DOCUMENT ON PREIMPLANTATION GENETIC DIAGNOSIS
HUMAN FERTILISATION AND EMBRYOLOGY AUTHORITY AND ADVISORY COMMITTEE ON GENETIC TESTING CONSULTATION DOCUMENT ON PREIMPLANTATION GENETIC DIAGNOSIS Introduction 1. This document considers the current and
More informationInfluences 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 informationGenetic testing. The difference diagnostics can make. The British In Vitro Diagnostics Association
6 Genetic testing The difference diagnostics can make The British In Vitro Diagnostics Association Genetic INTRODUCTION testing The Department of Health published Our Inheritance, Our Future - Realising
More informationPrenatal screening and diagnostic tests
Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are
More informationWhat is Thalassemia Trait?
What is Thalassemia Trait? Introduction Being tested for the thalassemia trait is easy This book contains basic information about the thalassemia trait. Whether you have been diagnosed with the thalassemia
More informationRECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI
RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS -RM Clinically recognized consecutive or non consecutive pregnancy losses before
More informationMitosis, Meiosis and Fertilization 1
Mitosis, Meiosis and Fertilization 1 I. Introduction When you fall and scrape the skin off your hands or knees, how does your body make new skin cells to replace the skin cells that were scraped off? How
More informationLecture 2: Mitosis and meiosis
Lecture 2: Mitosis and meiosis 1. Chromosomes 2. Diploid life cycle 3. Cell cycle 4. Mitosis 5. Meiosis 6. Parallel behavior of genes and chromosomes Basic morphology of chromosomes telomere short arm
More informationMEDICAL GENETICS GENERAL OBJECTIVE SPECIFIC OBJECTIVES
SUBJECT MEDICAL GENETICS CREDITS Total: 4.5 Theory 2.5 Practical 2 GENERAL OBJECTIVE To provide students with terminology and knowledge from the field of human genetics that will enable them to understand
More informationB2 5 Inheritrance Genetic Crosses
B2 5 Inheritrance Genetic Crosses 65 minutes 65 marks Page of 55 Q. A woman gives birth to triplets. Two of the triplets are boys and the third is a girl. The triplets developed from two egg cells released
More informationHeredity. Sarah crosses a homozygous white flower and a homozygous purple flower. The cross results in all purple flowers.
Heredity 1. Sarah is doing an experiment on pea plants. She is studying the color of the pea plants. Sarah has noticed that many pea plants have purple flowers and many have white flowers. Sarah crosses
More informationHuman Genome Organization: An Update. Genome Organization: An Update
Human Genome Organization: An Update Genome Organization: An Update Highlights of Human Genome Project Timetable Proposed in 1990 as 3 billion dollar joint venture between DOE and NIH with 15 year completion
More informationFluorescence in situ hybridisation (FISH)
Fluorescence in situ hybridisation (FISH) rarechromo.org Fluorescence in situ hybridization (FISH) Chromosomes Chromosomes are structures that contain the genetic information (DNA) that tells the body
More informationGenetics and Pregnancy Loss
Genetics and Pregnancy Loss Dorothy Warburton Genetics and Development (in Pediatrics) Columbia University, New York Estimates of Pregnancy Loss from Conception 1000 fertilized eggs (27% are lost) 728
More information1. When new cells are formed through the process of mitosis, the number of chromosomes in the new cells
Cell Growth and Reproduction 1. When new cells are formed through the process of mitosis, the number of chromosomes in the new cells A. is half of that of the parent cell. B. remains the same as in the
More informationTest Two Study Guide
Test Two Study Guide 1. Describe what is happening inside a cell during the following phases (pictures may help but try to use words): Interphase: : Consists of G1 / S / G2. Growing stage, cell doubles
More informationCarrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner)
Carrier Screening For Genetic Diseases Preconception Consent (Female and/or Male Partner) The goal of our practice at ARMS is to make sure that you receive optimal care to improve your chances of having
More information