Card Set Information
All non random mating increases the frequency of autosomal recessive disease except what?
negative assortment mating---mating with individuals that are different than you
Whats the difference between Euploidy and Aneuploidy?
Euploidy--change in the whole set of chromosome
i.e haploidy, diploidy, triploidy, tetraploidy
What is a nullisomic aneuploidy?
one pair of chromosomes is missing from a diploid set
most of the nondisjunctions occur in meiosis I or II?
in trisomy 21, nondisjunction is in mother or father?
5 % of trisomy is caused by what?
Prominent occiput, Clenched fists, rocker bottom feet are characteristic of what trisomy?
Polydyctaly, cleft palate
In turner syndrome the x is inherited from whom?
What happens to person who receives the x from the father?
Short statue in XO individuals is due to absence of what?
Shox genes located in the pseudoautosomal region of X and Y
Microdeletion of P arm of chromsome 5
Cri du Chat
Microdeletion of q arm of chromosome 15?
Sox9 on q arm of chromsome 17
Duplication of Sox9 on chr 17 may cause what?
sex reversal in females
Females pseudohermaphroditism is caused by?
CAH---21 alpha deficiency
Whats an example of a genome mutation?
trisomy or monosomy
Whats a chromosomal mutation?
insertion, deletion, inversion, translocation
Deamination and methylation of cytosine produces what nt?
Unequal crossing over often results in what hemoglobinopathy?
Hypercholesterimia , hemophilia A and Alpha thalasemia are commonly caused by?
unequal crossing over
How are human mutation rates expressed?
new mutation per locus per generation
Whats a good example for studying human mutation rate?
Why do NF1 and DMD have high rates of mutations?
because they are very large genes
High risk for nondisjunction with age is seen in what gender?
High risk for replication error with age are seen in what gender?
For highly penetrant AD disorder point mutation form what origin are common?
What is a good example of anticipation?
Microsatelites consist of few nucleotides repeated how many times?
Minisatellites consist of 50 nts repeated how many times?
Copy number polymorphisms are how big?
2 mega bytes
Comparative Genome Hybridization used what?
Copy number polymorphisms
Blood group antigens are on what chromosome?
What gives B antigen?
What gives A sugar?
MHC genes are on what chromosome?
Class I MHC
Class II MHC?
Ankylosis Spondylitis is characterized by what haplotype?
Whats an example of an HLA haplotype showing linkage disequilibrium in a disease?