Essentials of Genetics (9th Edition) - Standalone book
Essentials of Genetics (9th Edition) - Standalone book
9th Edition
ISBN: 9780134047799
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 16, Problem 28PDQ
Summary Introduction

To review:

The following:

(a) Neutral Polymorphism.

(b) The significance of the table in the context of examining a family or population for BRCA1 that predispose an individual to cancer.

(c) PM2 polymorphism results in a neutral missense mutation or a silent mutation.

(d) PM3 polymorphism results in a neutral missense mutation or a silent mutation.

Introduction:

Polymorphism occurs when locus of a gene is occupied by two or more alleles within a population. Types of polymorphisms are protein/enzyme polymorphisms and DNA (deoxyribonucleic acid) polymorphisms. DNA polymorphism is further segregated into neutral polymorphisms like Single nucleotide polymorphisms (SNPs), tandem repeat polymorphisms, structural polymorphisms (like deletions and inversions), and sequence polymorphisms. The table below shows the neutral polymorphisms in BRCA 1 gene:

Neutral Polymorphisms in BRCA1

Name Codon Location Base in codon+ Frequency in Control Chromosomes
A G T C
PM3 1619 1 116 52 0 0
PM7 1190 2 109 53 0 0
PM1 317 2 152 10 0 0
PM6 878 2 0 0 100 55
PM2 1443 3 0 0 58 115

The number of chromosomes having the particular base at the indicated polymorphic site (A, G, T or C) is shown. + Position (1, 2, or 3) of the codon.

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