Genetics Flashcards
differentiation def
specialization of (stem) cells
human genome project
1990-2003, effort to map the entire human genome > found that all humans have virtually the same genes but unique allele combinations
single-gene inheritance
traits influenced by only one pair of genes
traits that are polygenic
alcoholism (genes create addictive pull), nearsightedness, schizophrenia
factors causing genetic disorders
“advanced maternal age” (above 35), inherited disorders, spontaneous mutation, environment
- approx 60% of abortions in 1st trimester caused by chromosomal abnormalities
sex linked chromosomal disorders
red-green color blindness (pinched X) - mental disability, physical abnormalities, emotional problems
Turner syndrome (XO) - no menstrual cycle, no 2ndary sex characteristics
Klinefelter’s Syndrome (XXY) - sterile, female body characteristics
parental imprinting
same allele affects embryos differently depending on whether it comes from mom or dad
parental imprinting example
chromosome 15
dad - Prader Willi = overweight, slow moving, stubborn
mom - Angelman = underweight, hyperactive, overly happy
dominant disorders probability and examples
rare because people rarely live long enough to reproduce
ex:
Hungtington’s chorea & Marfan syndrome
recessive disorder examples
sickle cell anemia, CF, Tay-Sachs, Phenyletonurio (PKU)
why are recessive disorders passed on
sometimes because the genes are protective
ex: sickle cell anemia protects against malaria
triple/quad screen test
15-20 wks, maternal blood test for chromosomal abnormalities, low risk but cannot diagnose
ultrasound
low/no risk, helps estimate age of baby and gender, can identify physical abnormalities
chorionic villus sampling (CVS)
9/10th wk, samples hair-like material surrounding embryo
amniocentesis
16th wk, samples fetal cells from amniotic fluid