sept 13 - P E D IG R E E A N A LY S IS M a t in g s...

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1 N PEDIGREE ANALYSIS Matings Individuals Generations Homo sapiens is subject to a number of genetic diseases. The genetic nature of these diseases first became evident by examining patterns of familial inheritance. All are due to a single- locus, autosomal recessive trait. Sickle-cell anemia African, African-American Thalassemia Mediterranean populations Cystic fibrosis Caucasians, northern Europe Tay-Sachs disease Eastern European Jews Albinism (different forms) Each of these disease alleles originated from mutation of a functional wild-type allele. Some disease alleles are primarily found in a restricted geographical region or ethnic group. This can be a result of environmental natural selection factors ( e.g. sickle-cell anemia) or simply reflect a history of isolated populations and chance effects. Cystic fibrosis is a heritable disease, and analysis of familial pedigrees indicates that that it is transmitted as an autosomal recessive . Hartwell, Fig. 2.21 Individuals affected by cystic fibrosis The trachea, bronchi, and bronchioles of the human respiratory system are lined with ciliated mucus-secreting epithelia. In people suffering from cystic fibrosis, the mucus is atypically viscous (thick) and the beating cilia can not readily expel it from the lungs. cilia mucus-secreting goblet cell The cystic fibrosis allele produces a non-functional membrane protein whose normal form is a trans- membrane conductance regulator for chloride ions. Salt and water balance is altered in cells with cf proteins. Cystic fibrosis (CF) is a rare (1 in 2,000) disease
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This note was uploaded on 02/22/2010 for the course BIO 51980 taught by Professor Buskirk during the Fall '06 term at University of Texas.

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sept 13 - P E D IG R E E A N A LY S IS M a t in g s...

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