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All non random mating increases the frequency of autosomal recessive disease except what?
negative assortment mating---mating with individuals that are different than you
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Whats the difference between Euploidy and Aneuploidy?
- Euploidy--change in the whole set of chromosome
- i.e haploidy, diploidy, triploidy, tetraploidy
- Aneuploidy--monosomy, trisomy
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What is a nullisomic aneuploidy?
- one pair of chromosomes is missing from a diploid set
- i.e 2N-2
- monosomy--2N-1
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most of the nondisjunctions occur in meiosis I or II?
I
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in trisomy 21, nondisjunction is in mother or father?
mother
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5 % of trisomy is caused by what?
Chromosomal translocation
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Prominent occiput, Clenched fists, rocker bottom feet are characteristic of what trisomy?
edwards
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Polydyctaly, cleft palate
Patau,microencephaly
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In turner syndrome the x is inherited from whom?
mother
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What happens to person who receives the x from the father?
higher IQ
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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
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Microdeletion of q arm of chromosome 15?
- Prader willi---paternal
- Angelman---maternal
-
Camptomelic Dysplasia
Sox9 on q arm of chromsome 17
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Duplication of Sox9 on chr 17 may cause what?
sex reversal in females
-
Females pseudohermaphroditism is caused by?
CAH---21 alpha deficiency
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Whats an example of a genome mutation?
trisomy or monosomy
-
Whats a chromosomal mutation?
insertion, deletion, inversion, translocation
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Deamination and methylation of cytosine produces what nt?
Thymine
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Unequal crossing over often results in what hemoglobinopathy?
alpha thalassemia
-
Hypercholesterimia , hemophilia A and Alpha thalasemia are commonly caused by?
unequal crossing over
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How are human mutation rates expressed?
new mutation per locus per generation
-
Whats a good example for studying human mutation rate?
Achondroplasia
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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?
females
-
High risk for replication error with age are seen in what gender?
males
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For highly penetrant AD disorder point mutation form what origin are common?
male
-
What is a good example of anticipation?
Parkinsons
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Microsatelites consist of few nucleotides repeated how many times?
1-30
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Minisatellites consist of 50 nts repeated how many times?
100-1000
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Copy number polymorphisms are how big?
2 mega bytes
-
Comparative Genome Hybridization used what?
Copy number polymorphisms
-
Blood group antigens are on what chromosome?
9
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What gives B antigen?
Galactose
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What gives A sugar?
N acetylgalactosamine
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MHC genes are on what chromosome?
6
-
-
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Ankylosis Spondylitis is characterized by what haplotype?
B27
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Whats an example of an HLA haplotype showing linkage disequilibrium in a disease?
Hemochromatosis
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