-
Single Gene Disorders
Autosomal dominant diorders
- affected parent has 50% chance of transmitting dz to offspring
- e.g. huntington chorea - neurogenerative disorder
- marfan syndrome- (connective tissue)
- osteogenesis - brittle bone
-
autosomal recessive
- two copies of mutated gene
- e.g. cystic fibrosis - chloride ions in exocrine gland cause lung and pancreatic disese
- sickle cell disease
- tay sachs disease
-
x linked recessive
- associated with x chormosome
- mom 50% pass to son or 50% make daughter a carrier
- e.g. hemophilia A - bleeding disorder
- duchenne dystrophy - muscular dystrophy
- fragile x syndrome - intellectual disability
-
chromosomal disorders
turner syndrome
- female born with only 1 x
- monosomy
-
chromosomal disorders
Klinefelter syndrome
- male bron with extra X
- polysomy
-
chromosomal disorders
down syndrom
- extra 21st chromosome
- trisomy
-
Taratogentic agent
- agent that produces abnormalitites during embryonic or fetal life
- during early part of pregnancy (15-60 days after conception)
-
examples of teratogenic agents
- radiation
- drugs
- chemicals
- infectious agents
- alcohol (FAS)
- TORCH (toxoplasmosis, other [syphilis and hep b],rubella, cytomegalocirus, herpes
- folic acid deficiency
-
prenatal screening and diagnosis
- ultrasound
- maternal serum markers (ehh)
- cmniocentesis and chorionic villus sampling (can affect the sac)
- percutanoeus umbilical cord blood sampling
- cytogenetic andbiochemical analysis
|
|
