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Human Heredity and Development_Walsh_Date_032510

Human Heredity and Development_Walsh_Date_032510 -...

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Human Heredity & Development March 25, 2010 Professor Walsh Continued Notes… Cystic Fibrosis o Found on chromosome 7 o Sweat is salty o Large protein and large gene o Identified over 1,000 mutant alleles for this gene o Treatment – lungs become so damaged that transplant is needed; loosen the mucus to get it out; vapor to help breathing; digestive enzymes; gene therapy trying to replace the nonfunctional gene working on inhalants. Sickle cell anemia o Frequency – 1 in 500 African American; also found in those from India, and around the Mediterranean Sea o Gene – Chromosome 11 o Protein is hemoglobin and is involved in the transport of oxygen o Phenotype - Abnormal hemoglobin precipitates; forms rods and distorts RBCs o There are many symptoms – prone to respiratory infections, pain, organ failure, heart damage, lung damage, etc. There is treatment, lethal if not, through carrier testing. Very successful if treated. Some Autosomal dominant traits – table 4.2 in book
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Unformatted text preview: Autosomal dominant inheritance o Affected individuals are BB or Bb o Males and females are equally affected and either may transmit the trait = no sex differences o Affected phenotype does not skip generation. Affected children have (at least one) affected parent(s) o Unaffected parents have unaffected children Excepta new mutation; Pedigree: An Autosomal Dominant Trait The first thing you do with a pedigree is to count males and females Example: Marfan syndrome phenotype affects the skeletal system, cardiovascular system, and (near-sighted) eyes. Basketball and volleyball players have long legs and its found in those athletes. o Frequency 1 in 10,000 o 25% of the cases are new mutations Example: Huntington Disease o Frequency 1 in 10,000 o Gene Chromosome 4 o Protein Huntington o Phenotype affects the nerves to twitch, late onset disorder o Hh x hh o No treatment and no cure...
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