Heritability: Twin Studies. Twin studies are often used to assess genetic effects on variation in a trait
|
|
- Ashlie Nicholson
- 8 years ago
- Views:
Transcription
1 TWINS AND GENETICS
2 TWINS
3 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 influences 3
4 Understanding Genetic and Environmental Influences Using Twin Studies Monozygotic Twins 100% genes 100% home environment
5 Understanding Genetic and Environmental Influences Using Twin Studies Monozygotic Twins 100% genes 100% home environment Dizygotic Twins 50% genes 100% home environment
6 Understanding Genetic and Environmental Influences Using Twin Studies Monozygotic Twins 100% genes 100% home environment Dizygotic Twins 50% genes 100% home environment We are a combination of our genes and environment.
7 Do both twins show the same characteristic or trait? Trait Concordance rate Monozygotic Dizygotic Height 95% 52% IQ 90% 60%
8 Determining the incidence of a disease in twins helps delineate whether there are genetic and environmental components Both genetic and environmental factors important Disease Concordance Identical (MZ) Non identical (DZ) Cleft lip and palate Rheumatoid arthritis Asthma Coronary artery disease Diabetes mellitus 38% 34% 47% 19% 56% 8% 7% 24% 9% 11%
9 MZ and DZ concordance rates
10 The contributions of genetic and environmental factors to human diseases Haemophilia Osteogenesis imperfecta Peptic ulcer Diabetes Duchenne muscular dystrophy Club foot Pyloric stenosis Dislocation of hip Tuberculosis GENETIC ENVIRONMENTAL Phenylketonuria Galactosaemia Spina bifida Ischaemic heart disease Ankylosing spondylitis Scurvy Rare Genetics simple Unifactorial High recurrence rate Common Genetics complex Multifactorial Low recurrence rate
11 What are Polygenic and Multifactorial Trait? Polygenic traits are controlled by two or more genes Multifactorial traits are polygenic with an environmental component Example: Height The Genes are inherited in Mendelian fashion Interaction of genes with environment produce many different phenotypes
12 Height as a Multifactorial Trait
13 Typical Polygenic Trait in a Population Bell curve Most individuals are clustered at ~average Few individuals at extremes of the phenotype
14 Variation in Height
15 Characteristics of Multifactorial Traits Several genes control trait Not inherited as dominant or recessive Genes controlling trait contribute a small amount to phenotype Environmental factors interact with genes to produce phenotype Many phenotypic differences in trait
16 How can the probability of recurrence be determined for multifactorial disorders? The recurrence risk for multifactorial disorders has to be determined through family studies Observe the number of affected siblings in many families (empiric risk)
17 Proband Siblings of proband Families with one child with multifactorial condition 50 brothers and sisters
18 Proband Siblings of proband Families with one child with multifactoria l condition 50 brothers and sisters 2 affected with multifactorial condition
19 Proband Siblings of proband 2/50 affected with multifactorial condition Families with one child with multifactoria l condition Therefore probability of recurrence = 1/25 (4%)
20 Multifactorial: cleftlip/palatet Examples include some cases of cleft lip and palate; neural tube defects; diabetes and hypertension Caused by a combination of genetic predisposition and environmental influences Pattern more affected people in family than expected from incidence in population but doesn t fit dominant, recessive or X linked inheritance patterns
21 Family studies of the incidence of cleft lip (± cleft palate) Anomaly Risk to sibs % Bilateral cleft lip and palate 5.7 Unilateral cleft lip and palate 4.2 Unilateral cleft lip alone 2.5 The more severe the manifestation of a multifactorial condition, the greater the probability of recurrence
22 Some multifactorial conditions have an unequal sex ratio Condition Sex ratio (males to females) Pyloric stenosis 5 to 1 Hirschprung disease 3 to 1 Congenital dislocation of hip 1 to 6 Talipes 2 to 1 Rheumatoid arthritis 1 to 3 Peptic ulcer 2 to 1 For some conditions there must be a different threshold for males and females
23 Frequency of pyloric stenosis in relatives Relationship Frequency % Increase on general population risk for same sex Male relatives of a male patient Female relatives of a male patient Male relatives of a female patient Female relatives of a female patient 5 x10 2 x20 17 x35 1 x70 Pyloric stenosis occurs more commonly in boys than in girls; for a female to be affected with pyloric stenosis, she must have a particularly strong genetic susceptibility
24
25 Multifactorial inheritance: Factors increasing probability of recurrence in a particular family Close relationship to proband High heritability of disorder (more than 1family member affected) Proband of more rarely affected sex Severe or early onset disease Multiple family members affected All these suggest that the family has a higher liability to the disorder genes of higher effect or more adverse environmental influences
26 Multifactorial inheritance: Recurrence risk decreases rapidly in more remotely related individuals
27 How evidence is gathered for genetic factors in complex diseases Familial risks (what is the incidence of a disorder in relatives compared with the incidence in the general population?) Twin studies (what is the incidence in monozygotic compared with dizygotic twins?) Adoption studies (what is the incidence in adopted children of the disorders which their parent had?) Population and Migration studies (what is the incidence in people from a particular ancestry group when they move to a different geographical area?) Evidence from these types of studies can estimate the heritability of a condition the proportion of the aetiology ascribed to genetic factors rather than environmental factors
28
29 In multifactorial disorders, there is a threshold, above which a person will develop the multifactorial disorder No.of individuals in population Threshold Liability
30 Multifactorial disorders practice points Common conditions Environmental influences act with a genetic predisposition Multiple genes with individually small risks often implicated One organ system affected + environment Recurrence risks: empiric figures obtained from population studies use in population from which obtained No.of affected individuals Threshold Liability (genetic and environmental factors)
31 Major effort to identify common disease susceptibility genes underway Risk factors for coronary artery disease Uncontrollable (but identifiable) Family history (genetics) Age Male sex Potentially controllable or treatable Fatty diet Hypertension Smoking High serum cholesterol Low serum HDL High serum LDL Stress Insufficient exercise Obesity Diabetes
32 Common diseases Congenital malformations Cleft lip/palate Congenital hip dislocation Congenital heart defects Neural tube defects Pyloric stenosis Talipes Adult onset disorders Diabetes mellitus Epilepsy Glaucoma Hypertension Ischaemic heart disease Manic depression Schizophrenia
33 Victor A. McKusick Inheritance of monogenic and complex (multifactorial) disorders. In monogenic diseases, mutations in a single gene are both necessary and sufficient to produce the clinical phenotype and to cause the disease. The impact of the gene on genetic risk for the disease is the same in all families. In complex disorders with multiple causes, variations in a number of genes encoding different proteins result in a genetic predisposition to a clinical phenotype. Pedigrees reveal no Mendelian inheritance pattern, and gene mutations are often neither sufficient nor necessary to explain the disease phenotype. Environment and life-style are major contributors to the pathogenesis of complex diseases. However, between families the impact of these same genes might be totally different. In one family, a rare gene C (Family 3) might have a large impact on genetic predisposition to a disease. However, because of its rarity in the general population, the overall population effect of this gene would be small. Some genes that predispose individuals to disease might have minuscule effects in some families (gene D, Family 3).
34 Is Intelligence a Multifactorial Trait? Head size was used to determine intelligence Early 20th century, psychological rather than physical methods Intelligence quotient (IQ) assumes that intelligence is a biological property Concordance in MZ twins raised together and apart indicates genetic and environmental factors
35 Quantitative Trait Loci (QTLs) Use information from Human Genome Project Associated with reading disability (developmental dyslexia) Genes on chromosomes 6, 15, and 4 for cognitive ability Accumulated results indicate intelligence is polygenic and multifactorial trait
36 IQ and the Bell Curve
37 Human Genome and SNPs Now that the human genome is (mostly) sequenced, attention turning to the evaluation of variation Alterations in DNA involving a single base pair are called single nucleotide polymorphisms, or SNPs Map of ~1.4 million SNPs (Feb 2001) It is estimated that ~60,000 SNPs occur within exons; 85% of exons within 5 kb of nearest SNP
38 Disease Marker Association A marker locus is associated with a disease if the distribution of genotypes at the marker locus in disease affected individuals differs from the distribution in the general population A specific allele may be positively associated (over represented in affecteds) or negatively associated (under represented)
39 Examples: Alzheimer s Alzheimer s disease and ApoE E4 present E4 absent Patients Controls The E4 allele appears to be positively associated with Alzheimer s disease: Odds Ratio = (58/16)/(33/55) = 6
40 VOLUME 43 NUMBER 10 OCTOBER 2011, page 1006 Nature Genetics
41 Figure 1 Regional association plots of the eight SNPs at seven loci showing genome-wide significant association (P < ) with pulse pressure (PP) and/or mean arterial pressure (MAP). (a h) Shown is the statistical significance of each SNP on the log 10 scale as a function of chromosome position (NCBI build 36) in the meta-analysis of stage 1 only. The sentinel SNP at each locus is shown in blue; the correlations (r2) of each of the surrounding SNPs to the sentinel SNP are shown in the colors indicated in the key. The fine-scale recombination rate is shown in blue. Gene positions are indicated at the bottom.
42 Association is not a specifically genetic phenomenon. It is simply a statistical statement about the co occurence of alleles or phenotypes. Allele A is associated with disease D if people who have D also have A significantly more often (or maybe less often) than would be predicted from the individual frequencies of D and A in the population. For example, HLA DR4 is found in 36% of the general UK population but in 78% of people with rheumatoid arthritis
43 Association has many different explanations not all of them are genetic: >> direct cause: if you have allele A you are susceptible to disease D To be a carrier of allele A is not necessary nor sufficient to develop D, but it increases the likelihood >> natural selection: people who have disease D might be more likely to survive and have children if they also have allele A >> population stratification: the general population contains several sub groups, and allele A is more frequent in one of them. HLA A1 is associated to the ability to eat with chopsticks in San Francisco HLA A1 is more frequent in Chinese, who are a large sub group in San Francisco.
44 Comparison of identity by state and identity by descent. Kok H S et al. Hum. Reprod. Update 2005;11: The Author Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please journals.permissions@oupjournals.org
45 Examples of identity by descent (IBD). Kok H S et al. Hum. Reprod. Update 2005;11: The Author Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please journals.permissions@oupjournals.org
46 Affected sib pair analysis
47
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 informationKnown Donor Questionnaire
Known Donor Questionnaire Your donor s answers to these questions will provide you with a wealth of information about his health. You ll probably need assistance from a health care provider to interpret
More informationGenetics of Rheumatoid Arthritis Markey Lecture Series
Genetics of Rheumatoid Arthritis Markey Lecture Series Al Kim akim@dom.wustl.edu 2012.09.06 Overview of Rheumatoid Arthritis Rheumatoid Arthritis (RA) Autoimmune disease primarily targeting the synovium
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 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 informationLecture 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 informationTitle: 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 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 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 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 informationNGS and complex genetics
NGS and complex genetics Robert Kraaij Genetic Laboratory Department of Internal Medicine r.kraaij@erasmusmc.nl Gene Hunting Rotterdam Study and GWAS Next Generation Sequencing Gene Hunting Mendelian gene
More informationGlobally, about 9.7% of cancers in men are prostate cancers, and the risk of developing the
Chapter 5 Analysis of Prostate Cancer Association Study Data 5.1 Risk factors for Prostate Cancer Globally, about 9.7% of cancers in men are prostate cancers, and the risk of developing the disease has
More informationGAW 15 Problem 3: Simulated Rheumatoid Arthritis Data Full Model and Simulation Parameters
GAW 15 Problem 3: Simulated Rheumatoid Arthritis Data Full Model and Simulation Parameters Michael B Miller , Michael Li , Gregg Lind , Soon-Young
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 informationGenetics in Paediatrics. Diagnostics Aetiology Treatment Prognosis Prediktion Advise Research
Genetics in Paediatrics Diagnostics Aetiology Treatment Prognosis Prediktion Advise Research Genetic nomenclature,, abbreviations.. Mendels first law: Random transmittance to off-spring of the two chromosomes
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 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 informationInsurance. Chapter 7. Introduction
65 Chapter 7 Insurance Introduction 7.1 The subject of genetic screening in relation to insurance is not new. In 1935 R A Fisher addressed the International Congress of Life Assurance Medicine on the topic,
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 informationLogistic Regression (1/24/13)
STA63/CBB540: Statistical methods in computational biology Logistic Regression (/24/3) Lecturer: Barbara Engelhardt Scribe: Dinesh Manandhar Introduction Logistic regression is model for regression used
More informationA 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 informationGenetics 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 informationINTRODUCTION TO GENETIC EPIDEMIOLOGY (EPID0754) Prof. Dr. Dr. K. Van Steen
INTRODUCTION TO GENETIC EPIDEMIOLOGY (EPID0754) Prof. Dr. Dr. K. Van Steen Introduction to Genetic Epidemiology DIFFERENT FACES OF GENETIC EPIDEMIOLOGY 1 Basic epidemiology 1.a Aims of epidemiology 1.b
More informationThe Human Genome. Genetics and Personality. The Human Genome. The Human Genome 2/19/2009. Chapter 6. Controversy About Genes and Personality
The Human Genome Chapter 6 Genetics and Personality Genome refers to the complete set of genes that an organism possesses Human genome contains 30,000 80,000 genes on 23 pairs of chromosomes The Human
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 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 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 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 informationThe Future of the Electronic Health Record. Gerry Higgins, Ph.D., Johns Hopkins
The Future of the Electronic Health Record Gerry Higgins, Ph.D., Johns Hopkins Topics to be covered Near Term Opportunities: Commercial, Usability, Unification of different applications. OMICS : The patient
More informationThe Human Genome Project. From genome to health From human genome to other genomes and to gene function Structural Genomics initiative
The Human Genome Project From genome to health From human genome to other genomes and to gene function Structural Genomics initiative June 2000 What is the Human Genome Project? U.S. govt. project coordinated
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 informationImproving cardiometabolic health in Major Mental Illness
Improving cardiometabolic health in Major Mental Illness Dr. Adrian Heald Consultant in Endocrinology and Diabetes Leighton Hospital, Crewe and Macclesfield Research Fellow, Manchester University Metabolic
More informationSNP Essentials The same SNP story
HOW SNPS HELP RESEARCHERS FIND THE GENETIC CAUSES OF DISEASE SNP Essentials One of the findings of the Human Genome Project is that the DNA of any two people, all 3.1 billion molecules of it, is more than
More informationBecker Muscular Dystrophy
Muscular Dystrophy A Case Study of Positional Cloning Described by Benjamin Duchenne (1868) X-linked recessive disease causing severe muscular degeneration. 100 % penetrance X d Y affected male Frequency
More informationLitteratur. Lärandemål för undervisningstillfälle. Lecture Overview. Basic principles The twin design The adoption design
Litteratur Behavioral Genetics Twin and Adoptions studies Twin and adoption methods (Kapitel 5; sid 70-91) Henrik Larsson MEB Lärandemål för undervisningstillfälle - Studenten ska kunna redogöra för kvantitativa-genetiska
More informationThe Patterns and Public Health Impact of Heart Defects in Texas Pediatric Cardiac Care Conference VI Dell Children s Medical Center, Feb.
The Patterns and Public Health Impact of Heart Defects in Texas Pediatric Cardiac Care Conference VI Dell Children s Medical Center, Feb. 7-8, 2013 Mark Canfield, Ph.D. Manager, Birth Defects Epidemiology
More informationA Multi-locus Genetic Risk Score for Abdominal Aortic Aneurysm
A Multi-locus Genetic Risk Score for Abdominal Aortic Aneurysm Zi Ye, 1 MD, Erin Austin, 1,2 PhD, Daniel J Schaid, 2 PhD, Iftikhar J. Kullo, 1 MD Affiliations: 1 Division of Cardiovascular Diseases and
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 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 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 informationWhat is Cancer? Cancer is a genetic disease: Cancer typically involves a change in gene expression/function:
Cancer is a genetic disease: Inherited cancer Sporadic cancer What is Cancer? Cancer typically involves a change in gene expression/function: Qualitative change Quantitative change Any cancer causing genetic
More informationSeattleSNPs Interactive Tutorial: Web Tools for Site Selection, Linkage Disequilibrium and Haplotype Analysis
SeattleSNPs Interactive Tutorial: Web Tools for Site Selection, Linkage Disequilibrium and Haplotype Analysis Goal: This tutorial introduces several websites and tools useful for determining linkage disequilibrium
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 informationFamily History and Diabetes. Practical Genomics for the Public Health Professional
Family History and Diabetes Practical Genomics for the Public Health Professional Outline Overview of Type 2 Diabetes/Gestational Diabetes Familial/Genetic Nature of Diabetes Interaction of Genes and Environment
More informationOkami Study Guide: Chapter 3 1
Okami Study Guide: Chapter 3 1 Chapter in Review 1. Heredity is the tendency of offspring to resemble their parents in various ways. Genes are units of heredity. They are functional strands of DNA grouped
More informationPaternity Testing. Chapter 23
Paternity Testing Chapter 23 Kinship and Paternity DNA analysis can also be used for: Kinship testing determining whether individuals are related Paternity testing determining the father of a child Missing
More informationAssignment Discovery Online Curriculum
Assignment Discovery Online Curriculum Lesson title: Nature Versus Nurture Grade level: 9-12, with adaptation for younger students Subject area: Human Body Contemporary Studies Behavioral Science Duration:
More information7A 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 informationBiology 1406 - Notes for exam 5 - Population genetics Ch 13, 14, 15
Biology 1406 - Notes for exam 5 - Population genetics Ch 13, 14, 15 Species - group of individuals that are capable of interbreeding and producing fertile offspring; genetically similar 13.7, 14.2 Population
More informationTerms: 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 informationUsing Family History to Improve Your Health Web Quest Abstract
Web Quest Abstract Students explore the Using Family History to Improve Your Health module on the Genetic Science Learning Center website to complete a web quest. Learning Objectives Chronic diseases such
More informationBig Data for Population Health
Big Data for Population Health Prof Martin Landray Nuffield Department of Population Health Deputy Director, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery University of Oxford
More informationAutoimmunity and immunemediated. FOCiS. Lecture outline
1 Autoimmunity and immunemediated inflammatory diseases Abul K. Abbas, MD UCSF FOCiS 2 Lecture outline Pathogenesis of autoimmunity: why selftolerance fails Genetics of autoimmune diseases Therapeutic
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 informationChapter 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 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 informationDNA as a Biometric. Biometric Consortium Conference 2011 Tampa, FL
DNA as a Biometric Biometric Consortium Conference 2011 Tampa, FL September 27, 2011 Dr. Peter M. Vallone Biochemical Science Division National Institute of Standards and Technology Gaithersburg, MD 20899
More informationBasics 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 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 informationIntroductory genetics for veterinary students
Introductory genetics for veterinary students Michel Georges Introduction 1 References Genetics Analysis of Genes and Genomes 7 th edition. Hartl & Jones Molecular Biology of the Cell 5 th edition. Alberts
More informationGene 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 informationGenetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina
Genetic Counseling: A Profession in the Making Jessica Hooks, MS Genetic Counselor University of South Carolina Definition the process of helping people understand and adapt to the medical, psychological
More informationGeorgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD
Georgia Department of Human Resources BACKGROUND INFORMATION FOR NON-STATE AGENCY CHILD Responsible Party Telephone Number Date Name of Child Date of Birth Time of Birth Sex Resident County Placement County
More informationName: 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 informationMendelian 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 informationBRCA in Men. Mary B. Daly,M.D.,Ph.D. June 25, 2010
BRCA in Men Mary B. Daly,M.D.,Ph.D. June 25, 2010 BRCA in Men Inheritance patterns of BRCA1/2 Cancer Risks for men with BRCA1/2 mutations Risk management recommendations for men with BRCA1/2 mutations
More informationGenetic 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 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 informationValidation and Replication
Validation and Replication Overview Definitions of validation and replication Difficulties and limitations Working examples from our group and others Why? False positive results still occur. even after
More informationFactors for success in big data science
Factors for success in big data science Damjan Vukcevic Data Science Murdoch Childrens Research Institute 16 October 2014 Big Data Reading Group (Department of Mathematics & Statistics, University of Melbourne)
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 informationBiological Sciences Initiative. Human Genome
Biological Sciences Initiative HHMI Human Genome Introduction In 2000, researchers from around the world published a draft sequence of the entire genome. 20 labs from 6 countries worked on the sequence.
More informationBreast cancer and the role of low penetrance alleles: a focus on ATM gene
Modena 18-19 novembre 2010 Breast cancer and the role of low penetrance alleles: a focus on ATM gene Dr. Laura La Paglia Breast Cancer genetic Other BC susceptibility genes TP53 PTEN STK11 CHEK2 BRCA1
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 informationA and B are not absolutely linked. They could be far enough apart on the chromosome that they assort independently.
Name Section 7.014 Problem Set 5 Please print out this problem set and record your answers on the printed copy. Answers to this problem set are to be turned in to the box outside 68-120 by 5:00pm on Friday
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 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 informationElectronic Medical Records and Genomics: Possibilities, Realities, Ethical Issues to Consider
Electronic Medical Records and Genomics: Possibilities, Realities, Ethical Issues to Consider Daniel Masys, M.D. Affiliate Professor Biomedical and Health Informatics University of Washington, Seattle
More informationPREAMBLE. Robert Wells, Chairman Public Policy Committee. Jeffery Cossman, M.D., Chairman Clinical Science Committee
PREAMBLE Although the first draft of the human genome was unveiled less than a decade ago, genetic information is fast becoming integrated into the everyday flow of data that impacts not only human health
More informationGENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110
GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110 COVERAGE: Pre- and post-genetic test counseling may be eligible for coverage in addition to the genetic
More informationChapter 8: Recombinant DNA 2002 by W. H. Freeman and Company Chapter 8: Recombinant DNA 2002 by W. H. Freeman and Company
Genetic engineering: humans Gene replacement therapy or gene therapy Many technical and ethical issues implications for gene pool for germ-line gene therapy what traits constitute disease rather than just
More information(1-p) 2. p(1-p) From the table, frequency of DpyUnc = ¼ (p^2) = #DpyUnc = p^2 = 0.0004 ¼(1-p)^2 + ½(1-p)p + ¼(p^2) #Dpy + #DpyUnc
Advanced genetics Kornfeld problem set_key 1A (5 points) Brenner employed 2-factor and 3-factor crosses with the mutants isolated from his screen, and visually assayed for recombination events between
More informationSNPbrowser Software v3.5
Product Bulletin SNP Genotyping SNPbrowser Software v3.5 A Free Software Tool for the Knowledge-Driven Selection of SNP Genotyping Assays Easily visualize SNPs integrated with a physical map, linkage disequilibrium
More informationArray Comparative Genomic Hybridisation (CGH)
Array Comparative Genomic Hybridisation (CGH) Exceptional healthcare, personally delivered What is array CGH? Array CGH is a new test that is now offered to all patients referred with learning disability
More informationBasic Principles of Forensic Molecular Biology and Genetics. Population Genetics
Basic Principles of Forensic Molecular Biology and Genetics Population Genetics Significance of a Match What is the significance of: a fiber match? a hair match? a glass match? a DNA match? Meaning of
More informationMechanisms of Evolution
page 2 page 3 Teacher's Notes Mechanisms of Evolution Grades: 11-12 Duration: 28 mins Summary of Program Evolution is the gradual change that can be seen in a population s genetic composition, from one
More informationComplex Genetic Risk: The Implications for Insurance
Complex Genetic Risk: The Implications for Insurance Angus Macdonald Heriot-Watt University, Edinburgh The Maxwell Institute for Mathematical Sciences Indeed, the sociology of risk... is an academic subject
More informationBioBoot 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 informationG. Shashidhar Pai, MD MUSC Children s Hospital Department of Pediatrics Division of Genetics
G. Shashidhar Pai, MD MUSC Children s Hospital Department of Pediatrics Division of Genetics One of every 500 newborns has bilateral permanent sensorineural hearing loss 40 db which makes it the most common
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 informationSchool of Nursing. Presented by Yvette Conley, PhD
Presented by Yvette Conley, PhD What we will cover during this webcast: Briefly discuss the approaches introduced in the paper: Genome Sequencing Genome Wide Association Studies Epigenomics Gene Expression
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 informationCollaborative Association Study of Psoriasis. Gonçalo Abecasis, Anne Bowcock, James Elder, Jerry Krueger
Collaborative Association Study of Psoriasis Gonçalo Abecasis, Anne Bowcock, James Elder, Jerry Krueger Psoriasis Chronic, inflammatory skin condition Characteristic lesions, can affect substantial proportion
More informationEHRs and large scale comparative effectiveness research
EHRs and large scale comparative effectiveness research September 16, 2014 Dana C. Crawford, PhD Associate Professor Epidemiology and Biostatistics Institute for Computational Biology Single Nucleotide
More informationGenomes 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 informationGenetic Dissection of Complex Traits
PARTICLES MV M Genetic Dissection of Complex Traits Eric S. Lander* and Nicholas J. Medical genetics was revolutionized during the 1980s by the application of genetic mapping to locate the genes responsible
More informationGENETIC CONSIDERATIONS IN CANCER TREATMENT AND SURVIVORSHIP
GENETIC CONSIDERATIONS IN CANCER TREATMENT AND SURVIVORSHIP WHO IS AT HIGH RISK OF HEREDITARY CANCER? Hereditary Cancer accounts for a small proportion of all cancer or approximately 5-10% THE DEVELOPMENT
More informationSummary and conclusions. Chapter 8. Summary and conclusions
Summary and conclusions Chapter 8 Summary and conclusions 153 Chapter 8 154 Summary and conclusions Summary This thesis describes an experimental study in healthy MZ and same-sex DZ twins and siblings
More informationInvestigating the genetic basis for intelligence
Investigating the genetic basis for intelligence Steve Hsu University of Oregon and BGI www.cog-genomics.org Outline: a multidisciplinary subject 1. What is intelligence? Psychometrics 2. g and GWAS: a
More informationPreconception Clinical Care for Women Medical Conditions
Preconception Clinical Care for Women All women of reproductive age are candidates for preconception care; however, preconception care must be tailored to meet the needs of the individual. Given that preconception
More information