Genetic Disorders Flashcards
Homozygous
AA or aa
Heterozygous
Aa
Autosomal Dominant
single mutation results in condition regardless of sex
50% chance of inheritance
Autosomal Recessive
need 2 mutations to give condition
both parents normally heterozygotes
25% chance of inheritance
X linked
inherited from affected X chromosome, usually recessive
from mom
50% chance son inherits/ daughter is carrier
Marfan Syndrome
Autosomal Dominant
wingspan greater than height; pectus
Neurofibromatosis 1
Autosomal Dominant
tumors from peripheral nerves- neurofibromas
Autosomal Familial Adenomatous Polyposis
mutated APC gene- tumor suppressor
forms polyps in colon that can transform into colon cancer
CHRPE- 4+ bear tracks
Recessive Familial Adenomatous Polyposis
mutation of MYH gene- DNA repair
forms polyps that can become colon cancer
CHRPE- 4+ bear tracks
Hemophilia A
clotting Factor 8 deficiency
bleeding disordeer
X linked
Monosomies
missing chromosome
Trisomies
extra chromosomes
Triploidy
extra copy of all chromosomes
Translocation
chromosomes break and swap places
Deletion
loss of genetic materials
