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Ch. 6 - Genetic Analysis and Mapping in Bacteria and Bacteriophages
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 6, Problem A.2d

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.
Go to the 'Molecular Genetics' section and describe the most common mutation of the CF gene.

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Go to the OMIM website (https://omim.org) and enter 'Cystic Fibrosis' or 'CF gene' in the search bar to find the relevant entry for the CFTR gene, which is responsible for cystic fibrosis.
Navigate to the 'Molecular Genetics' section of the CFTR gene entry to find detailed information about mutations associated with cystic fibrosis.
Identify the most common mutation listed in this section. Typically, this is the ΔF508 (also written as p.Phe508del) mutation, which involves the deletion of a specific amino acid in the CFTR protein.
Understand that the ΔF508 mutation results in the loss of phenylalanine at position 508 in the CFTR protein, which affects the protein's folding and function, leading to the symptoms of cystic fibrosis.
Summarize the mutation by describing its type (deletion), its effect on the protein, and why it is the most common mutation causing cystic fibrosis.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

The CFTR gene encodes a protein that functions as a chloride channel in epithelial cells, crucial for maintaining fluid balance in organs like the lungs and pancreas. Mutations in this gene disrupt ion transport, leading to cystic fibrosis symptoms such as thick mucus buildup and respiratory issues.
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Common Mutations in the CFTR Gene

The most common mutation in the CFTR gene is the ΔF508 deletion, which removes a phenylalanine at position 508. This mutation causes misfolding of the CFTR protein, preventing it from reaching the cell surface and impairing chloride ion transport, which is central to cystic fibrosis pathology.
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Using the OMIM Database for Genetic Research

OMIM is an online resource that catalogs human genes and genetic disorders, providing detailed molecular genetics information. It is used to identify gene mutations, understand their effects, and explore genotype-phenotype relationships, aiding in research and clinical diagnosis.
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Related Practice
Textbook Question

The flow diagram identifies relationships between bacterial strains in various F factor states. For each of the four arrows in the diagram, provide a description of the events involved in the transition.

Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Go to the 'Population Genetics' section discussing the TSD gene. In a few sentences, summarize the human population in which TSD is most frequently found and give the approximate frequency of heterozygous carriers for the TSD mutation in North American Jews.

Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Look up Tay–Sachs disease (TSD), OMIM number 272800, and give the name and abbreviation of the affected gene and the chromosome location of the gene.

Textbook Question

Go online to the Online Mendelian Inheritance of Man (OMIM) website. Look up the following genetic conditions and answer the questions posed about them.

Look up cystic fibrosis (CF), OMIM 602421, and give the gene name and abbreviation and the chromosome location of the gene.

Textbook Question

Conjugation between an Hfr cell and an F⁻ cell does not usually result in conversion of exconjugants to the donor state. Occasionally, however, the result of this conjugation is two Hfr cells. Explain how this occurs.

Textbook Question

A couple comes into your genetic counseling practice with a question about the chance a future child of theirs might have a genetic disease. Three or four men in the woman's family, including her father, had a condition that might be genetic. Although her father is still alive, she has had little contact with him for much of her life and cannot describe or name the condition. Her partner is a healthy man whose family has no history indicating the presence of a genetic condition. To provide more information about this possible genetic condition for the couple, what is the first step you recommend?

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