lolernie's version from 2015-11-04 09:30


long noncoding RNA Xist - Silence Female X
methylated cytosines - attract a histone deacetylase, which removes acetyl groups from nearby histones and compacts chromatin structure.
Most of the cytosines found 5’ of guanine (CG dinucleotides) in our genome are methylated
Cytosine deamination + Oxygen addition turns cytosine into uracil = Incorporation of an adenine instead of a guanine
Southern Blot = DNA
Northern = RNA
Western = Protein
N-Terminus is start of protein
C-Terminus is Conclusion of protein
Pleiotropy - One gene two seemingly unrelated phenotypic traits
Question Answer
Genetic Heterogeneity types2 types allelic and locus
Genetic heterogeneits defineSame disease different allele or locus mutation
Allelic heterogeneityDifferent mutations same locus, same phenotype, 1000 diff CTFR mutations all cause cystic fibrosis
Locus HeterogeneityMutations at unrelated locus cause same disease (SCID can be X-linked for Autosomal)
Auto Dominant vs Recessive PatternImage
Gene Frequency from population sample2*(AA)+1(Aa)/2(AA+Aa+aa) Think total # genes
ABO problem for blood type A freq A=.1 B=.2 O=.7(A*A)+2(O*A)=.15
First cousins, shared grandad with disease, child's chance of getting?(1/2)^4 draw map
Acrocentric chroms13,14,15, 21 or 22
Polar Body IVFif 1st polar body has normal allele, then egg has mutant allele. second polar body contains the sister chromatid and confirms mutant allele was present in the egg
Pre-Meiosis 2 ChromosomesMatch. Diploid XX to be two haploid X's. Never Xx.
Least invasive 1st trimester fetal DNA sequencing