genetic terms and associations Flashcards
1
Q
codominance
A
alpha 1 antitrypsin
blood types
2
Q
vraiable expressivity
A
neurofibromatosis type 1
3
Q
incomplete penetrance
A
BRACA1
4
Q
pleiotropy
A
one gene has multiple phenotypes
ex: PKU= intelectual disability, musty body odor, light skin
5
Q
loss of hterozygosity
A
mutation in TUMOR SUPPRESSOR
retinboblastomas, LIE FRAUMENI, LYNCH(hnpcc)
6
Q
mosaicism
A
genetically distinct cell lines in same person
ex= McCune Albright –> mutation in alpha subunit of g protein
UNILATERAL cafe aulait spots, mens, precocious puberty
7
Q
allelic heterogeneity
A
different mutations at same locus produce sam phenotype
beta thal
8
Q
uniparentaly disomy
A
pt is euploid
consider when a patient suffers a recessive do when only one parent is a carrier
