Chapter 4 Pedigree Analysis in Human Genetics. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning

Size: px
Start display at page:

Download "Chapter 4 Pedigree Analysis in Human Genetics. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning"

Transcription

1 Chapter 4 Pedigree Analysis in Human Genetics

2 Mendelian Inheritance in Humans Pigmentation Gene and Albinism Fig. 3.14

3 Two Genes Fig. 3.15

4 The Inheritance of Human Traits Difficulties Long generation time Data must be obtained from offspring produced Experimental matings are not possible Limited sample size

5 Pedigree Analysis Pedigree is an orderly presentation of family information First step in studying the inheritance of traits Important in predicting genetic risk May be incomplete due to difficulties collecting information

6 Pedigree Analysis Construct pedigree using available information Rule out all patterns of inheritance that are inconsistent with the data May not have enough information to identify the mode of inheritance Some genetic disorders may have more than one pattern of inheritance

7 Catalogs of Genetic Traits Figure 4.4 Fig. 4.4

8 Autosomal Recessive Traits For rare traits most affected individuals have unaffected parents Offspring of two affected individuals are affected Expressed in males and females equally In rare traits unaffected parents with affected offspring may be related to each other

9 Pedigree Symbols Fig. 3.16

10 Proband First affected family member who seeks medical attention for a genetic disorder

11 Autosomal recessive Fig. 4.5

12 Rare recessive trait I 1 2 aa 1 2 II III aa aa 2 3 5

13 Rare recessive trait I 1 2 aa 1 2 II 1 Aa 2 3 Aa III aa aa 2 3 5

14 Rare recessive trait I AA? 1 2 aa Aa? 1 2 Aa? II Aa 1 Aa 2 3 Aa III aa aa 2 3 5

15

16 Cystic Fibrosis Is an Example of an Autosomal Recessive Trait Disabling and fatal disorder Affects sweat glands and glands that produce mucus and digestive enzymes Fig. 4.6

17 Molecular Basis for Cystic Fibrosis Gene located on chromosome 7 Cloned in 1989 (Tsui & Collins) Fig. 4.8

18 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) CFTR regulates flow of chloride ions across the plasma membrane Reduces fluid in glandular secretions Fig. 4.9

19 Sickle Cell Anemia Is an Autosomal Recessive Trait Hemoglobin is an oxygen transport molecule in red blood cells (RBC) Sickle cell hemoglobin is abnormal and causes RBCs to become crescent or sickle shaped RBCs are fragile It is difficult to maintain normal oxygen carrying capacity

20 Sickle Cell Anemia Many systems are affected Lethal as homozygous recessive Heterozygotes generally unaffected Confers resistance to malaria parasite High frequency in populations where malaria is found Fig. 4.11

21 Sickle-cell Syndrome Hbα gene Hbβ gene Wild-type Hbβ = A allele Sickle-cell allele Hbβ = S allele β α α β α αaa Wild type α αas Carrier α αss Affected α Α α Α Three kinds of hemoglobins S α α S

22 Carrier (ααas) Polypeptides: α, A and S Α α α Α S α α Α S α α S

23 Normal Carrier Affected Dominance Hb production AA AS SS Codominant RBC shape Normal Normal Sickle A -dominant S - recessive Malaria resistance Normal Resistant Resistant S - dominant A - recessive

24 Autosomal Dominant Traits Heterozygotes and homozygous dominant individuals are affected Affected offspring have at least one affected parent Equal number of males and females

25 Autosomal Dominant Fig. 4.12

I. Types of Genetic Disorders

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

More information

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

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

More information

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

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

More information

LESSON #1.8: SEX-LINKED TRAITS, PEDIGREE CHARTS, MULTIPLE ALLELES

LESSON #1.8: SEX-LINKED TRAITS, PEDIGREE CHARTS, MULTIPLE ALLELES LESSON #1.8: SEX-LINKED TRAITS, PEDIGREE CHARTS, MULTIPLE ALLELES PART A: SEX-LINKED TRAITS Sex-linked traits are controlled by genes located on the sex chromosomes. A recessive trait located on the X

More information

Notes: Types of Inheritance

Notes: Types of Inheritance Notes: Types of Inheritance Think about it You have a purple flower, you know purple is the dominate allele, but you do not know the genotype of the plant. How could you figure out it s genotype? Assume

More information

Applications in population genetics. Hanan Hamamy Department of Genetic Medicine and Development Geneva University

Applications in population genetics. Hanan Hamamy Department of Genetic Medicine and Development Geneva University Applications in population genetics Hanan Hamamy Department of Genetic Medicine and Development Geneva University Training Course in Sexual and Reproductive Health Research Geneva 2013 Population genetics

More information

Conceptual Questions C1. Answer: Dominance occurs when one allele completely exerts its phenotypic effects over another allele. Incomplete dominance

Conceptual Questions C1. Answer: Dominance occurs when one allele completely exerts its phenotypic effects over another allele. Incomplete dominance Conceptual Questions C1. Answer: Dominance occurs when one allele completely exerts its phenotypic effects over another allele. Incomplete dominance is a situation in which two alleles in the heterozygote

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

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

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

More information

The Making of the Fittest: Natural Selection in Humans

The Making of the Fittest: Natural Selection in Humans OVERVIEW MENDELIN GENETIC, PROBBILITY, PEDIGREE, ND CHI-QURE TTITIC This classroom lesson uses the information presented in the short film The Making of the Fittest: Natural election in Humans (http://www.hhmi.org/biointeractive/making-fittest-natural-selection-humans)

More information

What are genetic disorders?

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

More information

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

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

More information

Genetics & Inheritance

Genetics & Inheritance Genetics & Inheritance Part 1 Earth Day Creature! Genetics Terminology Genes are DNA sequences that contain instructions for building proteins or RNA molecules with enzymatic functions. Chromosomes are

More information

Mendel & the Gene Idea, Part II

Mendel & the Gene Idea, Part II Mendel & the Gene Idea, Part II Chapter 4, pp. 262-285 Lecture Outline Laws of probabilities govern Mendelian inheritance Beyond Mendel complex inheritance patterns Incomplete dominance Codominance and

More information

CHAPTER : Beyond Mendelian Genetics

CHAPTER : Beyond Mendelian Genetics CHAPTER 12.2 12.6: Beyond Mendelian Genetics Incomplete Dominance 1. In radishes, the gene that controls color exhibits incomplete dominance. Pure-breeding red radishes crossed with pure-breeding white

More information

Chapter 24 Genetics and Genomics

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

More information

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

6.1: Beyond Mendel s Observations of Inheritance pg. 242

6.1: Beyond Mendel s Observations of Inheritance pg. 242 6.1: Beyond Mendel s Observations of Inheritance pg. 242 Incomplete Dominance Incomplete dominance: is condition in which neither allele for a gene completely conceals the presence of the other; it results

More information

EXTENSIONS AND DEVIATIONS OF MENDELIAN INHERITANCE

EXTENSIONS AND DEVIATIONS OF MENDELIAN INHERITANCE EXTENSIONS AND DEVIATIONS OF MENDELIAN INHERITANCE INTRODUCTION In this lecture we will examine traits that deviate from the simple dominant/recessive relationship The inheritance patterns of these traits

More information

BISC403 Genetic and Evolutionary Biology Spring 2011

BISC403 Genetic and Evolutionary Biology Spring 2011 BISC403 Genetic and Evolutionary Biology Spring 2011 February 22, 2011 Summary of requirements for Exam 1 (to be given on March 1) plus first exam from fall of 2010 The primary responsibility is for any

More information

Molecular Biology Chapter 13: Evolution Hardy-Weinberg Practice Problems

Molecular Biology Chapter 13: Evolution Hardy-Weinberg Practice Problems Molecular Biology Chapter 13: Evolution Hardy-Weinberg Practice Problems When Allele Frequencies Are Given 1. Given a population in Hardy-Weinberg equilibrium with allele frequencies A = 0.9 and a = 0.1,

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

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

NAME PER DATE. We'll analyze inheritance for the case where each parent has one A allele and one a allele (i.e. both parents are Aa).

NAME PER DATE. We'll analyze inheritance for the case where each parent has one A allele and one a allele (i.e. both parents are Aa). 1 NAME PER DATE GENETICS REVIEW We all know that children tend to resemble their parents in appearance. Parents and children generally have similar eye color, hair texture, height and other characteristics

More information

Multiple Choice Review Mendelian Genetics & Inheritance Patterns

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

More information

Biology 3 Mendelian Inheritance (CH 7)

Biology 3 Mendelian Inheritance (CH 7) Biology 3 Mendelian Inheritance (CH 7) Dr. Terence Lee Genetics Genetics 1 2.20 DNA holds the genetic information to build an organism. 2.21 RNA is a universal translator, reading DNA and directing protein

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

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

14-1 Notes. Human Heredity

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

More information

Mendelian Genetics and Inheritance Problems

Mendelian Genetics and Inheritance Problems Biology 211 Mendelian Genetics and Inheritance Problems Mendel discovered and described many of the basic rules of genetics after studying the pattern of how inheritable traits were passed from generation

More information

Answers to Mendelian genetics questions BI164 Spring, 2007

Answers to Mendelian genetics questions BI164 Spring, 2007 Answers to Mendelian genetics questions BI164 Spring, 2007 1. The father has normal vision and must therefore be hemizygous for the normal vision allele. The mother must be a carrier and hence the source

More information

The activity. (a) none (b) 100% /all of them (c) none

The activity. (a) none (b) 100% /all of them (c) none Teacher Notes Introduction This activity is based on an article explaining the genetics. Several activities are included on the student sheet to focus their engagement with the text. You may not wish to

More information

CHAPTER 20 GENES AND MEDICAL GENETICS

CHAPTER 20 GENES AND MEDICAL GENETICS CHAPTER 20 GENES AND MEDICAL GENETICS BEHAVIORAL OBJECTIVES 1. Recognize the conventions biologists use to represent alleles using letters. [20.1, p.404, Fig. 20.2] 2. Distinguish between phenotype and

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

Roadmap. Optimal mutation rate

Roadmap. Optimal mutation rate Roadmap Optimal mutation rate Dominance and its implications Why is an allele dominant or recessive? Overdominance (heterozygote advantage) Underdominance (heterozygote inferiority) One minute responses

More information

Ch.12 Reading and Concept Review Packet /20

Ch.12 Reading and Concept Review Packet /20 Name: Period: Date: Ch.12 Reading and Concept Review Packet /20 Term Chapter 12 Reading and Concept Review: page 308-333. Directions: Link the various terms into coherent sentence or two that connects

More information

Chapter 18. Genes and Medical Genetics

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

More information

Genetic Diseases. Genetic diseases are a diverse group of disorders caused by mutation and chromosome abnormalities. There are three categories:

Genetic Diseases. Genetic diseases are a diverse group of disorders caused by mutation and chromosome abnormalities. There are three categories: Fact sheet...13 Genetic Diseases Genetic diseases are a diverse group of disorders caused by mutation and chromosome abnormalities. There are three categories: 1. Single gene defects are caused by mutations

More information

Human Genetic Disorders

Human Genetic Disorders Human Genetic Disorders How Many Chromosomes? The photo shows the chromosomes from a cell of a person with Down syndrome, a genetic disorder. The chromosomes have been sorted into pairs. 1. Count the number

More information

BIOLOGY I Study Guide # 5: Topic Genetics 1

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

More information

Lesson #1.7-Incomplete Dominance Codominance Dihybrid Crosses

Lesson #1.7-Incomplete Dominance Codominance Dihybrid Crosses Lesson #1.7-Incomplete Dominance Codominance Dihybrid Crosses Exceptions to Mendel s principles So far, offspring have either the phenotype of one parent or the other. Sometimes, there is no dominant or

More information

Genetics Problem Set

Genetics Problem Set AP Biology Name: Genetics Problem Set Independent Assortment Problems 1. One gene has alleles A and a. Another has alleles B and b. For each genotype listed, what type(s) of gametes will be produced? (Assume

More information

Chapter 16 How Populations Evolve

Chapter 16 How Populations Evolve Title Chapter 16 How Populations Evolve Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Population Genetics A population is all of the members of a single species

More information

Genetics 1. Defective enzyme that does not make melanin. Very pale skin and hair color (albino)

Genetics 1. Defective enzyme that does not make melanin. Very pale skin and hair color (albino) Genetics 1 We all know that children tend to resemble their parents. Parents and their children tend to have similar appearance because children inherit genes from their parents and these genes influence

More information

Hardy-Weinberg Equilibrium Problems

Hardy-Weinberg Equilibrium Problems Hardy-Weinberg Equilibrium Problems 1. The frequency of two alleles in a gene pool is 0.19 (A) and 0.81(a). Assume that the population is in Hardy-Weinberg equilibrium. (a) Calculate the percentage of

More information

2. For example, tall plant, round seed, violet flower, etc. are dominant characters in a pea plant.

2. For example, tall plant, round seed, violet flower, etc. are dominant characters in a pea plant. Principles of Inheritance and Variation Class 12 Chapter 5 Principles of Inheritance and Variation Exercise Solutions Exercise : Solutions of Questions on Page Number : 93 Q1 : Mention the advantages of

More information

BASIC GENETICS VOCABULARY

BASIC GENETICS VOCABULARY Name: Date: Period: Genetics Problem Sets Introduction: How do organisms come to look and act the way they do? How are characteristics passed from generation to generation? Genetics, the study of inheritance,

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

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

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

More information

Single-Gene Inheritance (Learning Objectives) Review the presence of homologous chromosomes in diploid organisms that reproduce sexually, the

Single-Gene Inheritance (Learning Objectives) Review the presence of homologous chromosomes in diploid organisms that reproduce sexually, the Single-Gene Inheritance (Learning Objectives) Review the presence of homologous chromosomes in diploid organisms that reproduce sexually, the definitions of karyotype, autosomes and sex chromosomes. Recognize

More information

MCB142/IB163 Mendelian and Population Genetics 9/19/02

MCB142/IB163 Mendelian and Population Genetics 9/19/02 MCB142/IB163 Mendelian and Population Genetics 9/19/02 Practice questions lectures 5-12 (Hardy Weinberg, chi-square test, Mendel s second law, gene interactions, linkage maps, mapping human diseases, non-random

More information

Lecture 2. A B C D histidine Protein

Lecture 2. A B C D histidine Protein Lecture 2 In this lecture we are going to consider experiments on yeast, a very useful organism for genetic study. Yeast is more properly known as Saccharomyces cerevisiae, which is the single-celled microbe

More information

Y-Linked Traits. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning

Y-Linked Traits. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning Y-Linked Traits Only males have Y chromosomes Passed from father to sons All Y-linked traits are expressed Approximately three dozen Y- linked traits have been discovered Pedigree for Y-Linked Trait Fig.

More information

Foundations of Genetics. Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display

Foundations of Genetics. Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display Foundations of Genetics 8.1 Mendel and the Garden Pea The tendency for traits to be passed from parent to offspring is called heredity Gregor Mendel (1822-1884) The first person to systematically study

More information

Science 103: Practice Questions for Exam 3

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

More information

Population Genetics. Macrophage

Population Genetics. Macrophage Population Genetics CCR5 CCR5-Δ32 Macrophage 1 What accounts for this variation? Random? Past epidemics (plague, smallpox)? What will happen to this variation in the future? Will Δ32 allele increase in

More information

Function of Hemoglobin. Sickle Cell Hemoglobin and Malaria

Function of Hemoglobin. Sickle Cell Hemoglobin and Malaria Function of Hemoglobin Sickle Cell Hemoglobin and Natural Selection in Human Populations Hemoglobin is the primary protein constituent of red blood cells Transports oxygen by binding with it tightly as

More information

Probability and the Idea of Chance

Probability and the Idea of Chance Probability and the Idea of Chance Instructions Activity 1. The Idea of Chance Consider a simple demonstration of the operation of chance (i.e., probability) in the tossing of coins. It is usually impossible

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

Today s Objectives. Probability rules apply to inheritance at more than one locus

Today s Objectives. Probability rules apply to inheritance at more than one locus Figure 14.8 Segregation of alleles and fertilization as chance events Today s Objectives Use rules of probability to solve genetics problems Define dominance, incomplete dominance, and co-dominance Extend

More information

Biol 1408 : Chapter 9 Patterns of Inheritance

Biol 1408 : Chapter 9 Patterns of Inheritance Biol 40 : Chapter 9 Patterns of Inheritance 9.6 Geneticists can use the testcross to determine unknown genotypes A testcross can show whether the unknown genotype includes a recessive allele. A testcross

More information

INCOMPLETE DOMINANCE

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

More information

Non-Mendelian Genetics. Chapter Five

Non-Mendelian Genetics. Chapter Five Non-Mendelian Genetics Chapter Five Mendel s Laws 1. Principle of Segregation Two alleles segregate randomly during formation of gametes 2. Independent Assortment Two genes will assort independently and

More information

Natural Selection. (1) variation in a trait between individuals (2) a relationship between the trait and reproductive success

Natural Selection. (1) variation in a trait between individuals (2) a relationship between the trait and reproductive success 1 Natural Selection Background Processes we've talked about so far (e.g.,, genetic sampling error, inbreeding, and gene flow) affect allele frequencies and/or genotype frequencies within a population,

More information

3. Mating two organisms produces a 3:1 ratio of the phenotype in progeny. The parental genotypes are

3. Mating two organisms produces a 3:1 ratio of the phenotype in progeny. The parental genotypes are 1. In dihybrid crosses, the ratio 9:3:3:1 indicates A. codominance. B. independent assortment. C. intermediate dominance. D. three alleles for each trait. 2. Mating of two organisms produces a 1:1 ratio

More information

Population Genetics (Outline)

Population Genetics (Outline) Population Genetics (Outline) Definition of terms of population genetics: population, species, gene, pool, gene flow Calculation of genotypic of homozygous dominant, recessive, or heterozygous individuals,

More information

Directed Reading B. Section: Traits and Inheritance A GREAT IDEA

Directed Reading B. Section: Traits and Inheritance A GREAT IDEA Skills Worksheet Directed Reading B Section: Traits and Inheritance A GREAT IDEA 1. What is the ratio that Mendel found for dominant to recessive traits? a. 1 to 1 c. 3 to 1 b. 2 to 1 d. 4 to 1 2. What

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

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

Not all traits are simply inherited by dominant and recessive alleles (Mendelian Genetics). In some traits, neither allele is dominant or many

Not all traits are simply inherited by dominant and recessive alleles (Mendelian Genetics). In some traits, neither allele is dominant or many Not all traits are simply inherited by dominant and recessive alleles (Mendelian Genetics). In some traits, neither allele is dominant or many alleles control the trait. Below are different ways in which

More information

Pedigree Studies. Opening Activity: Latin Root Word: Review of Old Information: Guinea pigs can have curly or straight hair, where the curly gene is

Pedigree Studies. Opening Activity: Latin Root Word: Review of Old Information: Guinea pigs can have curly or straight hair, where the curly gene is Section: 3.7 Opening Activity: Latin Root Word: Name: Review of Old Information: Guinea pigs can have curly or straight hair, where the curly gene is recessive. Guinea pigs can also have a condition called

More information

EXTENSIONS OF MENDELIAN INHERITANCE.

EXTENSIONS OF MENDELIAN INHERITANCE. CHAPTER 4: EXTENSIONS OF MENDELIAN INHERITANCE. Many crosses do not yield simple Mendelian ratios. Instead, the ratios are modified. These modifications reflect complexities in gene expression not complexities

More information

Topic 6: Genetics. 1. The transfer of genes from parents to their offspring is known as

Topic 6: Genetics. 1. The transfer of genes from parents to their offspring is known as 1. The transfer of genes from parents to their offspring is known as 5. The diagram below represents a reproductive process that takes place in humans. (1) differentiation (2) heredity (3) immunity (4)

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

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

Dihybrid Cross. Dihybrid Cross. Incomplete Dominance

Dihybrid Cross. Dihybrid Cross. Incomplete Dominance Dihybrid Cross Dihybrid Cross Cross involving two traits Mendel Observed that the genes for the different characters he studied were passed on independently of one another Genes for these characters resided

More information

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

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

More information

Lecture 6 Mendelian Genetics in Populations: Selection and Mutation

Lecture 6 Mendelian Genetics in Populations: Selection and Mutation Lecture 6 Mendelian Genetics in Populations: Selection and Mutation 1 Population: a group of interbreeding organisms and their offspring. Gene pool: the collection of alleles present within a population.

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

Chapter 12 Lecture Notes: The Nature of the Gene. I. How genes work or What does a piece of deoxyribonucleic acid have to do with the color of my cat?

Chapter 12 Lecture Notes: The Nature of the Gene. I. How genes work or What does a piece of deoxyribonucleic acid have to do with the color of my cat? Chapter 12 Lecture Notes: The Nature of the Gene I. How genes work or What does a piece of deoxyribonucleic acid have to do with the color of my cat? Phenotype genotype gene DNA The central dogmas: protein

More information

Solutions to Genetics Problems

Solutions to Genetics Problems Solutions to Genetics Problems This chapter is much more than a solution set for the genetics problems. ere you will find details concerning the assumptions made, the approaches taken, the predictions

More information

Easter School Life Sciences Grade 12. Genetics: Inheritance and Terminology 26 March 2013

Easter School Life Sciences Grade 12. Genetics: Inheritance and Terminology 26 March 2013 Genetics: Inheritance and Terminology 26 March 2013 Key Concepts Genetics is a science and specific terms are used. Make sure that you know and understand the following terms before you continue. Terminology

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

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

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

More information

Genetic Disorders. Things Can Go Wrong With DNA and Chromosomes

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

More information

Explore INVESTIGATION. How can a pedigree be used to trace a genetic disorder over generations? Using models. Name Date

Explore INVESTIGATION. How can a pedigree be used to trace a genetic disorder over generations? Using models. Name Date Name Date How can a pedigree be used to trace a genetic disorder over generations? A pedigree is a tool used by geneticists to study traits and genetic disorders in generations of families. A genetic disorder

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

Introduction to Medical Genetics. 1. Introduction to Medical Genetics

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

More information

Chapter 2. Scientific basis

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

More information

4. In a molecule of DNA, if there is 21% adenine (A), how much thymine (T) is present? How much cytosine (C) is present?

4. In a molecule of DNA, if there is 21% adenine (A), how much thymine (T) is present? How much cytosine (C) is present? Name Biology I Test Review DNA, Protein Synthesis and Genetics This review should only be used as a supplement to your notes, activities, and previous quizzes. For additional review and questions it may

More information

011 Chapter 11. Student: 1. The location on a chromosome where a particular gene is located is known as the:

011 Chapter 11. Student: 1. The location on a chromosome where a particular gene is located is known as the: 011 Chapter 11 Student: 1. The location on a chromosome where a particular gene is located is known as the: A. allele B. dihybrid C. locus D. diploid E. autosome 2. Which of the following is NOT a trait

More information

CHAPTER 13 Beyond Mendel

CHAPTER 13 Beyond Mendel CHAPTER 13 Beyond Mendel In the 20th century, geneticists have extended Mendelian principles not only to diverse organisms, but also to patterns of inheritance more complex than Mendel described. In fact,

More information

7.013 Problem Set 1 Solutions

7.013 Problem Set 1 Solutions MIT Department of Biology 7.013: Introductory Biology - Spring 2004 Instructors: Professor Hazel Sive, Professor Tyler Jacks, Dr. Claudette Gardel NAME TA Section # 7.013 Problem Set 1 Solutions FRIDAY

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

MCB142/IB163 Thomson Mendelian and Population Genetics Sep.16, Mendelian and Population Genetics Equations, Tables, Formulas, etc.

MCB142/IB163 Thomson Mendelian and Population Genetics Sep.16, Mendelian and Population Genetics Equations, Tables, Formulas, etc. MCB142/IB163 Thomson Mendelian and Population Genetics Sep.16, 2003 Practice questions lectures 6-13 Mendelian and Population Genetics Equations, Tables, Formulas, etc. confidence limits of an allele frequency

More information

Biology Chapter 7 Beyond Mendel Notes

Biology Chapter 7 Beyond Mendel Notes Biology Chapter 7 Beyond Mendel Notes Phenotype: Genotype: What is Mendelian inheritance controlled by? Incomplete Dominance:. Example of Incomplete Dominance: Example Number 2 When green betta fish (B

More information

Teacher Preparation Notes for Genetics 1

Teacher Preparation Notes for Genetics 1 Teacher Preparation Notes for Genetics 1 This activity helps students to understand basic principles of genetics, including: how genotype influences phenotype how genes are transmitted from parents to

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

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

7.014 Problem Set 7 Solutions

7.014 Problem Set 7 Solutions 7.014 Problem Set 7 Solutions Question 1 Meiosis is the process by which gametes or sex cells are created. Recall that chromosome content of the cell undergoing meiosis changes from 2n to 4n to 1n. a)

More information