Imprinting and Uniparental Disomy Flashcards
_____________ is the mechanism for “turning on or off” genes long term
epigenetics
Epigenetics includes ____________ mRNAs, _____________ deacetylation/modification, __________ methylation and _____________modification
noncoding mRNAs
histone deacetylation
DNA methylation
chromatin modification
_______________ __________________ is when one parental allele is inactivated at a specific locus
parental imprinting
= functional hemizygosity
There are approximately _________ imprinted genes
128
Imprinting is reversed during _________________
gametogenesis
Imprinted genes encode for ______________ and proteins
RNA
ex XIST
Imprinted genes cluster on chromosomes __, __, __, __, __ & __
6, 7, 11, 14, 15 and 20
The largest imprinted gene cluster is on chromosome _________________
11p15
_________ ____________ ____________ work by controlling nearby gene, binding Cis-acting elements and DNA methylation/histone deacetylation
imprinting control regions (ICRs)
or IC centers (ICCs)
Methylation occurs on the __________ site of CpG
5 prime methylcytosine
Imprinting disorders can be caused by ____________ or _____________, __________ disomy, mutations of single ________ genes and mutations of the __________ center
deletions/duplications
uniparental disomy
single imprinted genes
imprinting center
__________ ______________ is when both chromosome copies from same parent
uniparental disomy
Uniparental disomy is ____________ in spontaneous abortions (
rare (0.2-0.3%)
______________ _________________ is one reason why cloned animals have so many problems
uniparental disomy
only maternal genes
Beyond trisomy rescue, there is also __________ rescue that is a source of uniparental disomy
monosomy
isodisomy - risk for imprinting and AR disorders
There is a __________ chance of uniparental disomy with NDJ in meiosis I and trisomy rescue (deletion of 1/3 chromosomes)
1/3
other two times you get biparental
heterodisomy - risk for imprinting disorders but not AR
65% of UPD cases have _____________ karyotype
normal
Testing for UPD may need to include both ____________ and ___________analysis!
molecular and chromosome
SNP microarray can detect UPD, but cannot detect ___________
rearrangements
Chromosomes will not detect ____________, but will find rearrangements
UPD