Genetics: From Genes to Genomes, 5th edition
Genetics: From Genes to Genomes, 5th edition
5th Edition
ISBN: 9780073525310
Author: Leland H. Hartwell, Michael L. Goldberg, Janice A. Fischer, Leroy Hood, Charles F. Aquadro
Publisher: McGraw-Hill Education
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Chapter 20, Problem 9P
Summary Introduction

a.

To determine:

The frequency of allele responsible for alkaptonuri.

Introduction:

Alkaptonuria is a type of disorder. It is a recessive autosomal genetic disorder. It is related to the darkening of urine. It has been found that 1 out of every 250,000 people suffer from this disorder.

Summary Introduction

b.

To determine:

The proportion of the population of U.S. that is carrier of alkaptonuria. The ratio of carriers of alkaptonuria to individuals affected by alkaptonuria.

Introduction:

The individuals that carry disease-causing genes are called carriers. The carriers are not the sufferer. The role of carriers is to pass the disease-causing genes to the next generation. Alkaptonuria is also a genetic disorder that is transmitted by the carriers to the next generation offsprings.

Summary Introduction

c.

To determine:

The chance that a child produced by the woman from her second marriage would have alkaptonuria.

Introduction:

The woman produces a child suffering from alkaptonuria from the first marriage. After some time, the woman gets remarried to another to another man. The woman can produce normal as well as the abnormal child with her second husband.

Summary Introduction

d.

To determine:

Whether the assumption of Hardy-Weinberg equilibrium can be used to estimate the allele frequencies and carrier frequencies of severe recessive autosomal disorders.

Introduction:

Geoffrey H. Hardy was a scientist who proposed the concept of Hardy-Weinberg equilibrium. This concept is used to associate the allele frequency with the genotype frequency. The proportion of gene copies that are of a common allele type in a population is termed as allele frequency.

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Cystic fibrosis (CF) is a recessive autosomal disorder. In certainpopulations of Northern European descent, the number of peopleborn with this disorder is about 1 in 2500. Assuming Hardy-Weinberg equilibrium for this trait:A. What are the frequencies for the common (non-disease-causing)allele and the mutant (disease-causing) allele.B. What are the genotype frequencies of homozygous unaffected,heterozygous, and homozygous affected individuals?C. Assuming random mating, what is the probability that twophenotypically unaffected heterozygous carriers will chooseeach other as mates?
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Chapter 20 Solutions

Genetics: From Genes to Genomes, 5th edition

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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY