Human Heredity and Development_Walsh_Date_032508

Human Heredity and Development_Walsh_Date_032508 - o...

Info iconThis preview shows page 1. Sign up to view the full content.

View Full Document Right Arrow Icon
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 Autosomal dominant inheritance
Background image of page 1
This is the end of the preview. Sign up to access the rest of the document.

Unformatted text preview: 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 Except…a 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 it’s 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...
View Full Document

This note was uploaded on 08/30/2010 for the course BISC 105 taught by Professor Patriciawalsh during the Spring '10 term at University of Delaware.

Ask a homework question - tutors are online