The cystic fibrosis (CF) gene (location: chromosome 7, region q31) has been cloned and sequenced, and studies

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The cystic fibrosis (CF) gene (location: chromosome 7, region q31) has been cloned and sequenced, and studies of CF patients have shown that about 70 percent of them are homozygous for a mutant CF allele that has a specific three-nucleotide-pair deletion (equivalent to one codon). This deletion results in the loss of a phenylalanine residue at position 508 in the predicted CF gene product. Assume that you are a genetic counselor responsible for advising families with CF in their pedigrees regarding the risk of CF among their offspring. How might you screen putative CF patients and their parents and relatives for the presence of the CFDF508 mutant gene? What would the detection of this mutant gene in a family allow you to say about the chances that CF will occur again in the family?

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Principles of Genetics

ISBN: 978-1119142287

7th edition

Authors: D. Peter Snustad, Michael J. Simmons

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