Term
|
Definition
AD
Fibroblast Growth Factor Receptor tyrosine kinase - Gain of Function to be constitutively active, inhibits proliferatio of chondrocytes
100% is a mutation @ 1138 Guanine
80% is de novo
lack of allelic heterogeneity |
|
|
Term
|
Definition
Polygenic/Multifactorial
PSEN1/2
B amyloid precursor protein metabolism cause neural disfunction and apoptosis |
|
|
Term
| Hereditary Breast and Ovarian Cancer |
|
Definition
AD
BRCA1 and BRCA2 mutations
DNA repair genes - TSG
Show loss of heterozygosity |
|
|
Term
| Charcot-Marie Tooth Disease Type 1A |
|
Definition
AD
PMP22
Distal Weakness, no reflexes
20-33% de novo
Involved in myelin compaction
full penetrance, variable expressivity |
|
|
Term
| Chronis Myelongenous Leukemia |
|
Definition
Somatic Translocation of 2 genes (BCR-ABL) to make oncogene
No risk of transmission to kids |
|
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Term
|
Definition
autosomal recessive
CFTR problem, poor movement of salts
very heterogenous mutation |
|
|
Term
| Duchenne Muscular Dystrophy |
|
Definition
X-Linked
Huge dystrophin gene (79 exons) - muscle wasting, especially in calf
Females can be affected due to X inactivation
14% germline mosaicsm
15% de novo
Beckers is less severe case |
|
|
Term
| Familial Adenomatous Polyposis |
|
Definition
AD
APC *already has AP in it!
protein mutation (cytoskeleton and apoptosis protein)
High degree of loss of Heterozygosity
25% de novo |
|
|
Term
| Familial Hypercholesterolemia |
|
Definition
AD
LDL Receptor Mutation
Dominant negative as multiple LDL parts have to come together for dimer |
|
|
Term
|
Definition
X Linked Mental Retardation
FMR1 Mutation - CGG Triplet Repeat Expansion
premutation 50-200
mutation > 200 causes hypermethylation and gene inactivation
Half of females that are carriers will be affected, depending on X inactivaton
Expands in oogenesis |
|
|
Term
| Glucose 6 Phosphate Dehydrogenase Deficiency |
|
Definition
X Linked
G6PD Mutation
Hyemolytic Anemia as lack of NADPH for oxidant detoxification
A- African
B-Mediterranean - more severe
Carriers do not show symptoms |
|
|
Term
| Hereditary Hemocromatosis |
|
Definition
AR
HFE mutation
Fatigue, Importance, high serum Iron
95% homozygous Cys282Try
5% hetero Cys282Try and His63Asp but needs environment
Mutant HFE interferes with Hepcidin and causes enterocytes and macrophages to release iron
low penetrance
northern european decent most prominant |
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Term
|
Definition
X - Linked
A - F8
B - F9 - more rare
F8 and F9 are clotting factors
Very rare in females from x inactivation
Point mutation De novo always in spermatogenesis
Deletion de novo always in oogenesis |
|
|
Term
| Hereditary Nonpolyposis Colon Cancer |
|
Definition
AD
DNA Mismatch Repair Gene Mutations
Lots of microsatellite instability
Lots of loss of heterozygosity
80% Penetrance |
|
|
Term
|
Definition
AD or AR or Multigenic
RET gene
Constipation and Abdominal Distension
absence of paraganglian cells in the submucosal [;exuses of the intestine
4:1 males to females
Recurrence highest for long and female proband |
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Term
|
Definition
Autosomal Dominant
HD mutation - CAG repeat > 36
Increases in spermatogenesis
anticipation
Chorea nonreptitive jerks |
|
|
Term
|
Definition
AD
FBN1 mutation (fibrillin)
30% de novo
ectopic lens
dominant negative pathogenesis and haploinsufficiency
very allelic heterogenous |
|
|
Term
|
Definition
mitochondrial
tRNAlys mutation
Myoclonic Epilespy with Ragged Red Fibers
Very heteroplasmic
Bad complex 1 and 4 |
|
|
Term
|
Definition
AD
NF1 mutation
neurofibromin gene
50% de novo
Loss of function of gene product
100% penetrance, very variable expressivity |
|
|
Term
| Ornithine Transcarbamylase Deficiency |
|
Definition
X Linked
Hyperammonia
De novo almost always in spermatogenesis (women become carrier and gives to son)
Girl carriers can become ill later in life w/ heavy protein intake |
|
|
Term
|
Definition
AR
valine for glutamic acid at AA6
Can be SS or CS (more mild)
lack of allelic heterogeneity
1/600 African Amer
Hb C most common in africans |
|
|
Term
|
Definition
AR
HEXA mutation
GM2 ganglioside Accumultion
Ash Jew have 1/30 carrier
French Canadians High too |
|
|
Term
|
Definition
AR
alpha or Beta globin deficiency
Most common single gene disorder
Malaria resistance
Very heterozygous
unbalence of alpha and beta globulins
alpha - deletions, no alphas makr 4 Hb's together called Barts causing hypoxia as bad O2 transport, onset prenateally, normally 4 functional genes with increasing severity as more are mutated
beta- onset a few months after birth as Beta replaces fetal gamma, substitutions, 2 genes and major (severe anemia) if both are affected |
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Term
|
Definition
AR
Defect of Nucleotide Excision Repair
Higher in Japanese
Tons of allelic Heterogeneity
more susceptible to carcinogens |
|
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Term
|
Definition
Achondroplasia - 80%
NF1 - 50%
MARFAN - 30%
Familial Adenomatous Polyposis - 25% |
|
|
Term
|
Definition
|
|
Term
| X Linked Carriers with phenotypes |
|
Definition
| Females Frequently Own Disease |
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|
Term
| X Linked but carriers without Phenotype |
|
Definition
|
|
Term
| Autosomal Recessive Groups |
|
Definition
|
|
Term
|
Definition
Alziehmers
Single Organ Defects
Hiresprung |
|
|
Term
|
Definition
XP - Nucleotide Excision Repair
Hereditary Nonpolyposis Colon Cancer - Mismatch Repair Genes |
|
|
Term
| Trinucleotide Repeat Disorders |
|
Definition
Fragile X
Hunters
Myotonic Dystrophy |
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