Introduction to Medical Genetics. 1. Introduction to Medical Genetics

Size: px
Start display at page:

Download "Introduction to Medical Genetics. 1. Introduction to Medical Genetics"

Transcription

1 Introduction to Medical Genetics 1

2 2

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

4 The nucleus Chromosomes. p- Genes q- Deoxyribonucleic acid (DNA) 4

5 5

6 Chromosomes Chromosomes are distinguished by their appearance size position of centromere 6 pattern of bands (when stained)

7 When chromosomes are preparing to divide the DNA replicates itself into two strands called chromatids Replicating chromosome The same chromosome under normal conditions Telomere Centromere The two chromatids Telomere 7

8 Chromosome nomenclature Two arms p (petite) and q (follows p in alphabet) All cells in the human body (SOMATIC CELLS) have 46 or 23 pairs of chromosomes P q 1-22 = autosome numbers X, Y = sex chromosomes Karyotype - the chromosome constitution of an individual 8

9 46,XX = female 46,XY = male Giemsa banding (G-banding) 9

10 Glossary & Definitions I Character - a structure, function, or attribute determined by a gene or group of genes i.e. the appearance of the seed coat in Mendel s garden pea studies Trait - the alternate forms of the character i.e smooth or wrinkled peas Phenotype - the physical description of the character in an individual organism i.e a green pea, green eyes Genotype - the genetic constitution of the 10 organism i.e Gg or GG

11 11

12 Glossary & Definitions II Locus - a chromosomal location Alleles - alternative forms of the same locus Mutation - a change in the genetic material, usually rare and pathological Polymorphism - a change in the genetic material, usually common and not pathological 12

13 Homozygote - an organism with two identical alleles Heterozygote - an organism with two different alleles Hemizygote - having only one copy of a gene Males are hemizygous for most genes on the sex chromosomes Dominant trait - a trait that shows in a heterozygote Recessive trait - a trait that is hidden in a heterozygote 13

14 A common misconception is that genes are dominant or recessive However, it is the trait that is dominant or recessive, not the gene 14

15 15

16 Standard pedigree symbols Male, affected Female, unaffected Male, deceased Mating Consanguineous mating Pregnancy Male, heterozygous for autosomal recessive trait Female, heterozygous for Autosomal or X-linked recessive trait Dizygotic (non-identical) twins Monozygotic (identical) twins Spontaneous abortion or still birth 16

17 Standard pedigree symbols 17

18 Role of Genes in Human Disease Most diseases / phenotypes result from the interaction between genes and the environment Some phenotypes are primarily genetically determined Achondroplasia Other phenotypes require genetic and environmental factors Mental retardation in persons with PKU Some phenotypes result primarily from the environment or chance Lead poisoning 18

19 100% Environmental Struck by lightning Infection Weight Hair Colour Cancer Diabetes 100% Genetic Height Sex, Down syndrome, achondroplasia 19

20 Medical genetics in the health service A Medical Genetics Unit Clinical Genetics Consultant Molecular Genetics Lab Cytogenetics Lab Clinical diagnosis Genetic counselling Risk assessment Prenatal & presymptomatic diagnosis 20 20

21 Major types of genetic disease Chromosomal disorders Single gene diseases Polygenic diseases 21

22 Chromosomal disorders Addition or deletion of entire chromosomes or parts of chromosomes Typically more than 1 gene involved 1% of paediatric admissions and 2.5% of childhood deaths Classic example is trisomy 21 - Down syndrome 22

23 Down Syndrome 23

24 Single gene disorders Single mutant gene has a large effect on the patient Transmitted in a Mendelian fashion Autosomal dominant, autosomal recessive, X-linked, Y-linked Osteogenesis imperfecta - autosomal dominant Sickle cell anaemia - autosomal recessive Haemophilia - X-linked 24

25 Neonatal fractures typical of osteogenesis imperfecta, an autosomal dominant disease caused by rare mutations in the type I collagen genes COL1A1 and COL1A2 A famous carrier of haemophilia A, an X-linked disease caused by mutation in the factor VIII gene Sickle cell anaemia, an autosomal recessive disease caused by mutation in the b-globin gene 25

26 Autosomal dominant pedigree 26

27 Polygenic diseases The most common yet still the least understood of human genetic diseases Result from an interaction of multiple genes, each with a minor effect The susceptibility alleles are common Type I and type II diabetes, autism, osteoarthritis 27

28 Polygenic disease pedigree 28

29 Identifying disease genes has been revolutionized by the sequencing of the Human Genome 29

30 The genome project A massive technical and computational project that was spread across the globe 30

31 DNA Sequencing currently a fluorescent-based technology 31

32 The human sequence 3.3 billion base pairs Gene prediction as of Aug 2006 = 26,800 32

33 February 2001 Human genome sequence published - kind of 33

34 The principal protagonists Francis Collins Head of the Human Genome Project Craig Venter Head of Celera Genomics 34

35 Human sequence & many others 35

36 Searching for FRZB 36

37 FRZB is located on chromosome 2 37

38 FRZB transcript sequence 38

39 Two common amino acid substitutions in FRZB 39

40 Some other projects inspired by the genome sequencing project Mapping all common DNA variants The HapMap project Elucidating their function, if any Mouse knock-out projects Diversity projects Regulatory elements 40

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

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

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

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

Name: 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: 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 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

Heredity - Patterns of Inheritance

Heredity - 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 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

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

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

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

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

Influence of Sex on Genetics. Chapter Six

Influence 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 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

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

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

Bio EOC Topics for Cell Reproduction: Bio EOC Questions for Cell Reproduction:

Bio 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 information

Heredity. Sarah crosses a homozygous white flower and a homozygous purple flower. The cross results in all purple flowers.

Heredity. 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 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

Prof. Arjumand S. Warsy Department of Biochemistry College of Science, King Saud University, Riyadh

Prof. Arjumand S. Warsy Department of Biochemistry College of Science, King Saud University, Riyadh GENOTYPE, PHENOTYPE AND GENE FREQUENCIES Prof. Arjumand S. Warsy Department of Biochemistry College of Science, King Saud University, Riyadh Introduction Genotype is the genetic makeup of an individual

More information

Mendelian and Non-Mendelian Heredity Grade Ten

Mendelian and Non-Mendelian Heredity Grade Ten Ohio Standards Connection: Life Sciences Benchmark C Explain the genetic mechanisms and molecular basis of inheritance. Indicator 6 Explain that a unit of hereditary information is called a gene, and genes

More information

Complex Inheritance. Mendel observed monogenic traits and no linked genes It s not usually that simple.

Complex Inheritance. Mendel observed monogenic traits and no linked genes It s not usually that simple. Complex Inheritance Mendel observed monogenic traits and no linked genes It s not usually that simple. Other Types of Inheritance Incomplete Dominance The phenotype of the heterozygote is intermediate

More information

Genetics Module B, Anchor 3

Genetics Module B, Anchor 3 Genetics Module B, Anchor 3 Key Concepts: - An individual s characteristics are determines by factors that are passed from one parental generation to the next. - During gamete formation, the alleles for

More information

Cell Division. Use Target Reading Skills. This section explains how cells grow and divide.

Cell Division. Use Target Reading Skills. This section explains how cells grow and divide. Cell Processes and Energy Name Date Class Cell Processes and Energy Guided Reading and Study Cell Division This section explains how cells grow and divide. Use Target Reading Skills As you read, make a

More information

Chapter 3. Chapter Outline. Chapter Outline 9/11/10. Heredity and Evolu4on

Chapter 3. Chapter Outline. Chapter Outline 9/11/10. Heredity and Evolu4on Chapter 3 Heredity and Evolu4on Chapter Outline The Cell DNA Structure and Function Cell Division: Mitosis and Meiosis The Genetic Principles Discovered by Mendel Mendelian Inheritance in Humans Misconceptions

More information

UNIT 13 (OPTION) Genetic Abnormalities

UNIT 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 information

Gene Mapping Techniques

Gene Mapping Techniques Gene Mapping Techniques OBJECTIVES By the end of this session the student should be able to: Define genetic linkage and recombinant frequency State how genetic distance may be estimated State how restriction

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

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

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

Chapter 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. 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 information

Chapter 9 Patterns of Inheritance

Chapter 9 Patterns of Inheritance Bio 100 Patterns of Inheritance 1 Chapter 9 Patterns of Inheritance Modern genetics began with Gregor Mendel s quantitative experiments with pea plants History of Heredity Blending theory of heredity -

More information

Nature of Genetic Material. Nature of Genetic Material

Nature of Genetic Material. Nature of Genetic Material Core Category Nature of Genetic Material Nature of Genetic Material Core Concepts in Genetics (in bold)/example Learning Objectives How is DNA organized? Describe the types of DNA regions that do not encode

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

Genetics Lecture Notes 7.03 2005. Lectures 1 2

Genetics Lecture Notes 7.03 2005. Lectures 1 2 Genetics Lecture Notes 7.03 2005 Lectures 1 2 Lecture 1 We will begin this course with the question: What is a gene? This question will take us four lectures to answer because there are actually several

More information

Population Genetics and Multifactorial Inheritance 2002

Population Genetics and Multifactorial Inheritance 2002 Population Genetics and Multifactorial Inheritance 2002 Consanguinity Genetic drift Founder effect Selection Mutation rate Polymorphism Balanced polymorphism Hardy-Weinberg Equilibrium Hardy-Weinberg Equilibrium

More information

11.1 The Work of Gregor Mendel

11.1 The Work of Gregor Mendel 11.1 The Work of Gregor Mendel Lesson Objectives Describe Mendel s studies and conclusions about inheritance. Describe what happens during segregation. Lesson Summary The Experiments of Gregor Mendel The

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

Genetic and Evolutionary Foundations of Behavior. Quick Question. Darwin s Theory 2/10/2012. Chapter 3

Genetic and Evolutionary Foundations of Behavior. Quick Question. Darwin s Theory 2/10/2012. Chapter 3 Genetic and Evolutionary Foundations of Behavior Chapter 3 Gray, Psychology, 6e Worth Publishers 2010 Quick Question What do you know about Darwin? Come up with as many things as possible. Darwin s Theory

More information

Name: Class: Date: ID: A

Name: Class: Date: ID: A Name: Class: _ Date: _ Meiosis Quiz 1. (1 point) A kidney cell is an example of which type of cell? a. sex cell b. germ cell c. somatic cell d. haploid cell 2. (1 point) How many chromosomes are in a human

More information

Lecture 5 Mutation and Genetic Variation

Lecture 5 Mutation and Genetic Variation 1 Lecture 5 Mutation and Genetic Variation I. Review of DNA structure and function you should already know this. A. The Central Dogma DNA mrna Protein where the mistakes are made. 1. Some definitions based

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

7A The Origin of Modern Genetics

7A The Origin of Modern Genetics Life Science Chapter 7 Genetics of Organisms 7A The Origin of Modern Genetics Genetics the study of inheritance (the study of how traits are inherited through the interactions of alleles) Heredity: the

More information

Heritability: Twin Studies. Twin studies are often used to assess genetic effects on variation in a trait

Heritability: Twin Studies. Twin studies are often used to assess genetic effects on variation in a trait TWINS AND GENETICS TWINS Heritability: Twin Studies Twin studies are often used to assess genetic effects on variation in a trait Comparing MZ/DZ twins can give evidence for genetic and/or environmental

More information

Chapter 21 Active Reading Guide The Evolution of Populations

Chapter 21 Active Reading Guide The Evolution of Populations Name: Roksana Korbi AP Biology Chapter 21 Active Reading Guide The Evolution of Populations This chapter begins with the idea that we focused on as we closed Chapter 19: Individuals do not evolve! Populations

More information

Biology 1406 Exam 4 Notes Cell Division and Genetics Ch. 8, 9

Biology 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 information

PRACTICE PROBLEMS - PEDIGREES AND PROBABILITIES

PRACTICE 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 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

somatic cell egg genotype gamete polar body phenotype homologous chromosome trait dominant autosome genetics recessive

somatic cell egg genotype gamete polar body phenotype homologous chromosome trait dominant autosome genetics recessive CHAPTER 6 MEIOSIS AND MENDEL Vocabulary Practice somatic cell egg genotype gamete polar body phenotype homologous chromosome trait dominant autosome genetics recessive CHAPTER 6 Meiosis and Mendel sex

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

Terms: The following terms are presented in this lesson (shown in bold italics and on PowerPoint Slides 2 and 3):

Terms: The following terms are presented in this lesson (shown in bold italics and on PowerPoint Slides 2 and 3): Unit B: Understanding Animal Reproduction Lesson 4: Understanding Genetics Student Learning Objectives: Instruction in this lesson should result in students achieving the following objectives: 1. Explain

More information

TERATOGENESIS ONTOGENESIS

TERATOGENESIS 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 information

C1. A gene pool is all of the genes present in a particular population. Each type of gene within a gene pool may exist in one or more alleles.

C1. A gene pool is all of the genes present in a particular population. Each type of gene within a gene pool may exist in one or more alleles. C1. A gene pool is all of the genes present in a particular population. Each type of gene within a gene pool may exist in one or more alleles. The prevalence of an allele within the gene pool is described

More information

Biology Final Exam Study Guide: Semester 2

Biology Final Exam Study Guide: Semester 2 Biology Final Exam Study Guide: Semester 2 Questions 1. Scientific method: What does each of these entail? Investigation and Experimentation Problem Hypothesis Methods Results/Data Discussion/Conclusion

More information

Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs)

Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Single nucleotide polymorphisms or SNPs (pronounced "snips") are DNA sequence variations that occur

More information

Genetic Disorders HST.023. Spring 2003

Genetic Disorders HST.023. Spring 2003 Harvard-MIT Division of Health Sciences and Technology HST.035: Principle and Practice of Human Pathology Dr. Badizadegan Genetic Disorders HST.023 Spring 2003 Genetic Disorders Cytogenetic Disorders Gross

More information

Genetics of Turner syndrome. Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics

Genetics of Turner syndrome. Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics Genetics of Turner syndrome Rosemarie Kelly Principal genetic Counsellor National Centre for Medical Genetics National Centre for Medical Genetics Clinical Genetics Cytogenetics Molecular Genetics www.genetics.ie

More information

MEDICAL GENETICS GENERAL OBJECTIVE SPECIFIC OBJECTIVES

MEDICAL 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 information

CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE. Section B: Sex Chromosomes

CHAPTER 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 information

Lecture 3: Mutations

Lecture 3: Mutations Lecture 3: Mutations Recall that the flow of information within a cell involves the transcription of DNA to mrna and the translation of mrna to protein. Recall also, that the flow of information between

More information

Human 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 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 information

*Please consult the online schedule for this course for the definitive date and time for this lecture.

*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 information

Fact Sheet 14 EPIGENETICS

Fact 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 information

X Linked Inheritance

X 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 information

Mutations & DNA Technology Worksheet

Mutations & DNA Technology Worksheet Mutations & DNA Technology Worksheet Name Section A: Mutations Mutations are changes in DNA. Somatic mutations occur in non-reproductive cells and won't be passed onto offspring. Mutations that occur in

More information

Sex Linkage. Reciprocal Cross. Exceptions 8/26/10

Sex Linkage. Reciprocal Cross. Exceptions 8/26/10 Sex Linkage Reciprocal Cross Organisms that have different sexes can be crossed in two different ways Phenotype A male X Phenotype B female Phenotype B male X Phenotype A female Mendel concluded that reciprocal

More information

Punnett Square: Monohybird Crosses

Punnett Square: Monohybird Crosses Punnett Squares A Punnett square is a mathematical device used by geneticists to show combinations of gametes and to predict offspring ratios. There are a few fundamental concepts of Punnett squares that

More information

Genetics for the Novice

Genetics for the Novice Genetics for the Novice by Carol Barbee Wait! Don't leave yet. I know that for many breeders any article with the word genetics in the title causes an immediate negative reaction. Either they quickly turn

More information

Allele Frequencies: Changing. Chapter 15

Allele Frequencies: Changing. Chapter 15 Allele Frequencies: Changing Chapter 15 Changing Allele Frequencies 1. Mutation introduces new alleles into population 2. Natural Selection specific alleles are more likely to be passed down because they

More information

17. A testcross A.is used to determine if an organism that is displaying a recessive trait is heterozygous or homozygous for that trait. B.

17. A testcross A.is used to determine if an organism that is displaying a recessive trait is heterozygous or homozygous for that trait. B. ch04 Student: 1. Which of the following does not inactivate an X chromosome? A. Mammals B. Drosophila C. C. elegans D. Humans 2. Who originally identified a highly condensed structure in the interphase

More information

Test Two Study Guide

Test 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 information

Meiosis. The form of cell division by which gametes, with half the number of chromosomes, are produced. Diploid (2n) haploid (n)

Meiosis. The form of cell division by which gametes, with half the number of chromosomes, are produced. Diploid (2n) haploid (n) MEIOSIS Meiosis The form of cell division by which gametes, with half the number of chromosomes, are produced. Diploid (2n) haploid (n) Meiosis is sexual reproduction. Two divisions (meiosis I and meiosis

More information

BioBoot Camp Genetics

BioBoot Camp Genetics BioBoot Camp Genetics BIO.B.1.2.1 Describe how the process of DNA replication results in the transmission and/or conservation of genetic information DNA Replication is the process of DNA being copied before

More information

Information leaflet. Centrum voor Medische Genetica. Version 1/20150504 Design by Ben Caljon, UZ Brussel. Universitair Ziekenhuis Brussel

Information leaflet. Centrum voor Medische Genetica. Version 1/20150504 Design by Ben Caljon, UZ Brussel. Universitair Ziekenhuis Brussel Information on genome-wide genetic testing Array Comparative Genomic Hybridization (array CGH) Single Nucleotide Polymorphism array (SNP array) Massive Parallel Sequencing (MPS) Version 120150504 Design

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

Chromosomal Basis of Inheritance. Ch. 3

Chromosomal 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 information

Genetic testing. The difference diagnostics can make. The British In Vitro Diagnostics Association

Genetic 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 information

Genetic Mutations Cause Many Birth Defects:

Genetic Mutations Cause Many Birth Defects: Genetic Mutations Cause Many Birth Defects: What We Learned from the FORGE Canada Project Jan M. Friedman, MD, PhD University it of British Columbia Vancouver, Canada I have no conflicts of interest related

More information

B2 5 Inheritrance Genetic Crosses

B2 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 information

Exam 1. CSS/Hort 430. 2008 All questions worth 2 points

Exam 1. CSS/Hort 430. 2008 All questions worth 2 points Exam 1. CSS/Hort 430. 2008 All questions worth 2 points 1. A general definition of plants is they are eukaryotic, multi-cellular organisms and are usually photosynthetic. In this definition, eukaryotic

More information

LECTURE 6 Gene Mutation (Chapter 16.1-16.2)

LECTURE 6 Gene Mutation (Chapter 16.1-16.2) LECTURE 6 Gene Mutation (Chapter 16.1-16.2) 1 Mutation: A permanent change in the genetic material that can be passed from parent to offspring. Mutant (genotype): An organism whose DNA differs from the

More information

Mendelian Genetics. I. Background

Mendelian Genetics. I. Background Mendelian Genetics Objectives 1. To understand the Principles of Segregation and Independent Assortment. 2. To understand how Mendel s principles can explain transmission of characters from one generation

More information

Cystic 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 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 information

4.1 Cell Division and Genetic Material pg The Cell Theory is a central idea to Biology and it evolved in the 1800 s. The Cell Theory States:

4.1 Cell Division and Genetic Material pg The Cell Theory is a central idea to Biology and it evolved in the 1800 s. The Cell Theory States: 4.1 Cell Division and Genetic Material pg. 160 The Cell Theory is a central idea to Biology and it evolved in the 1800 s. The Cell Theory States: 1. All living things are composed of one or more cells.

More information

Honors Biology Practice Questions #1. Name. 6. Seastars have a diploid number of 24 chromosomes. The haploid number would be

Honors Biology Practice Questions #1. Name. 6. Seastars have a diploid number of 24 chromosomes. The haploid number would be Honors Biology Practice Questions #1 1. Donkeys have 68 chromosomes in each body cell. If a donkey cell undergoes meiosis, how many chromosomes should be in each gamete? A. 18 B. 34 C. 68 D. 132 2. A sperm

More information

II B. Gene Flow. II C. Assortative Mating. II D. Genetic Drift. II E. Natural Selection. Northern Elephant Seal: Example of Bottleneck

II B. Gene Flow. II C. Assortative Mating. II D. Genetic Drift. II E. Natural Selection. Northern Elephant Seal: Example of Bottleneck I. What is Evolution? Agents of Evolutionary Change The Five Forces of Evolution and How We Measure Them A. First, remember that Evolution is a two-stage process: 1. Production and redistribution of variation

More information

Basics of Marker Assisted Selection

Basics of Marker Assisted Selection asics of Marker ssisted Selection Chapter 15 asics of Marker ssisted Selection Julius van der Werf, Department of nimal Science rian Kinghorn, Twynam Chair of nimal reeding Technologies University of New

More information

INTRODUCTION TO DROSOPHILA GENETICS

INTRODUCTION TO DROSOPHILA GENETICS INTRODUCTION TO DROSOPHILA GENETICS DROSOPHILA CULTURE We will study basic principles of Mendelian inheritance with the use of the fruit fly, Drosophila melanogaster [the name means black-bodied fruit-lover

More information

STUDENT ID NUMBER, LAST NAME,

STUDENT ID NUMBER, LAST NAME, EBIO 1210: General Biology 1 Name Exam 3 June 25, 2013 To receive credit for this exam, you MUST bubble in your STUDENT ID NUMBER, LAST NAME, and FIRST NAME No. 2 pencils only You may keep this exam to

More information

Chapter 14: Mendel and the Gene Idea

Chapter 14: Mendel and the Gene Idea Name Period Chapter 14: Mendel and the Gene Idea If you have completed a first-year high school biology course, some of this chapter will serve as a review for the basic concepts of Mendelian genetics.

More information

Lecture 2: Mitosis and meiosis

Lecture 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 information

INTRODUCTION TO GENETICS USING TOBACCO (Nicotiana tabacum) SEEDLINGS

INTRODUCTION TO GENETICS USING TOBACCO (Nicotiana tabacum) SEEDLINGS INTRODUCTION TO GENETICS USING TOBACCO (Nicotiana tabacum) SEEDLINGS By Dr. Susan Petro Based on a lab by Dr. Elaine Winshell Nicotiana tabacum Objectives To apply Mendel s Law of Segregation To use Punnett

More information

Two copies of each autosomal gene affect phenotype.

Two copies of each autosomal gene affect phenotype. SECTION 7.1 CHROMOSOMES AND PHENOTYPE Study Guide KEY CONCEPT The chromosomes on which genes are located can affect the expression of traits. VOCABULARY carrier sex-linked gene X chromosome inactivation

More information

Genomes and SNPs in Malaria and Sickle Cell Anemia

Genomes and SNPs in Malaria and Sickle Cell Anemia Genomes and SNPs in Malaria and Sickle Cell Anemia Introduction to Genome Browsing with Ensembl Ensembl The vast amount of information in biological databases today demands a way of organising and accessing

More information

Gene mutation and molecular medicine Chapter 15

Gene 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 information

Chapter 16 Evolution of Populations. 16.1 Genes and Variation Biology Mr. Hines

Chapter 16 Evolution of Populations. 16.1 Genes and Variation Biology Mr. Hines Chapter 16 Evolution of Populations 16.1 Genes and Variation Biology Mr. Hines Figure 1-21 Levels of Organization Section 1-3 Levels of organization Biosphere Ecosystem The part of Earth that contains

More information

Chapter 23. (Mendelian) Population. Gene Pool. Genetic Variation. Population Genetics

Chapter 23. (Mendelian) Population. Gene Pool. Genetic Variation. Population Genetics 30 25 Chapter 23 Population Genetics Frequency 20 15 10 5 0 A B C D F Grade = 57 Avg = 79.5 % (Mendelian) Population A group of interbreeding, sexually reproducing organisms that share a common set of

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

AP 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 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 information