Essential Cell Biology (fifth Edition)
Essential Cell Biology (fifth Edition)
5th Edition
ISBN: 9780393680362
Author: ALBERTS, Bruce, Hopkin, Karen, Johnson -
Publisher: W. W. Norton & Company
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Chapter 10, Problem 1Q
Summary Introduction

To explain: Whether a carrier of beta globulin defective gene passes the same defect to its offspring.

Introduction: Hemoglobin protein that functions as the carrier of oxygen throughout the body consists of four subunits of alpha and beta globulins. Genes that code for beta globulin proteins (a constituent of hemoglobin) are called as beta globulin gene. A beta globulin gene occurs as two copies of genes in the locus of chromosome 11. These genes encode for a protein (beta globulin protein) that together with the alpha globulin makes the structure of hemoglobin and facilitates transport of the oxygen molecules. Any mutation in these genes may leads to production of protein with altered function. And there is chance of inheritance of the mutated gene from the carrier parent to the progeny.

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Mutations lead to changes in the predetermined genetic makeup of the organism that are not usually desired but occur all of a sudden. These mutations are not always inherited to the progeny, as they descend their parents. Some mutations are corrected by self-repair mechanisms of our body and the rest are persisted and passed to the future generations. The severity of the mutation always depends upon the gene where it occurred and what changes it makes in the designed order of the genes, specifically the nucleotide sequences. But it is not necessary that a mutated gene produces a defective protein. Such mutations that will not result in altered protein product are called as silent mutations.

In silent mutations, the mutations will change the codon into another codon but still codes for the similar amino acids. Sometimes, the mutations did not affect the protein structure till it occurs at the folding domain. If not, the mutation will be a point mutation (a change in single amino acid encodes different protein).

Inheritance of the mutated gene depends highly on the precise modifications or the alterations in a particular gene. Any mutations in the beta globulin gene will give rise to various diseases. Mutations may occur at a single amino acid sequence and then lead to disease called as sickle cell anemia. A homozygous or heterozygous change in the beta globulin gene gives rise to a disease called beta thalassemia. The inheritance of the defective gene in beta thalassemia depends on the carriers of the disease. A progeny by birth has a defective beta globulin gene when both of the parents are the carriers of the same defective gene and if only one parent is affected and carries a defective gene, then only 50% of their offspring will carry the disease with a mutated gene.

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