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Chapter 14.docx

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Temple University
BIOL 1001

Chapter 14 Cystic Fibrosis • Caused by mutations in CFTR (cystic fibrosis translocator) gene. (CTFR protein) • Gene encodes a defective channel protein in membrane of cells, in exocrine glands • CF-Glands secrete abnormally thick mucus due to osmotic imbalance. • Interferes with breathing, pancreatic function, and allows growth of bacteria due to mucus production. • Gene for CFTR located on human chromosome 7. • In heterozygotes, harmful allele is masked but can still be passed on to offspring. Genes • Each chromosome has a short arm (p arm) and a long arm (q arm) • Karyotype: a picture of the chromosomes in a cell that is used to check for abnormalities • Akaryotype is created by staining the chromosomes with dye and photographing them. • The photograph is then cut up and rearranged so that chromosomes are lined up into corresponding pairs. • Pedigree Chart: shows genetic connections among individuals. Autosomal Recessive Disorders • If parents are both heterozygous (carriers), child will have a 25% chance of being affected • Sex of offspring doesn’t affect chances because gene for disorder is on a non sex chromosome (not X or Y) • CF & Tay Sachs • Phenylketonuria(PKU)–inability of the body to utilize the essential amino acid, phenylalanine. Because the phenylalanine hydroxylase is decifient in turning it into tyrosine, problem with meta
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