1. Cytogenetic

1
Types of Genetic Tests

• 1. Cytogenetic
• 2. DNA
• 3. Metabolic

2

• Huntingtons Disease
• dominant progressive disorder of the nervous
  system that usually appears in adults 35-45 years
  old
• symptoms include involuntary movements, loss of
  motor control, and decline in cognitive abilities
• mutant alleles of HD gene contain 36 CAG
  repeats, compared to 26 in normal alleles

3

• RNA interference therapy testing Huntingtons
  Disease

small interfering RNAs direct the degradation of
HD RNA
4

• Cystic fibrosis
• most common fatal genetic disease in US
• caused by recessive mutations in CFTR gene,
  which encodes a chloride ion channel
• When transport of chloride
• is blocked, the mucus lining
• the lungs dries out and
• becomes abnormally thick.
• This often leads to life-
• threatening lung infections

? F508
5
Testing for cystic fibrosis
Testing
1/20
Alters and Alters, Ch. 14 Human Genetics, 2006