Flashcards in Autosomal dominant Deck (37)
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1
rare when a _______ dominant mutation causing disease
homozygous dominant
AA
2
example of complete penetrance
achondroplasia
3
achondroplasia is autosomal _____
dominant
4
de novo mutation
mutations that occur in the egg or sperm or immediately after fertilzation
5
de novo mutations would explain
autosomal dominant disorder seen in children without affected parents
6
clinical achondroplasia
1. short
2. rhizomelic limb shortening
3. short fingers
4. genu varum
5. trident hands
6. large/frontal bossing
7. midfacial retrusion
8. small foramen magnum/ craniocervical instability
7
achondroplasia is lethal in
homozygous dominant state
8
achondroplasia gene
FGFR3
fibroblast growth factor receptor 3
9
achondroplasia gene funct
regulates bone growth by limiting the formation of bone from cartilage
10
achondroplasia chrom
4p16.3
nucleotide 1138
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achondroplasia mutation function
increases the activity of protein interfering with skeletal development
12
____ has highest new mutation rate known in man
Nucleotide 1138 of FGFR3 gene
13
Pure dominant
Homozygotes and Heterozygotes are both equally affected
14
incompletely dominant
homozygotes are affected most severely
15
reduced penetrance
1. retinoblastoma
2. BRCA mutation
3. huntongton's disease
16
variable expressivity examples
Neurofibromatosis type 1
osteoogenesis imperfect type 1
17
Neurofibromatosis type 1
new mutation rate
50%
18
Neurofibromatosis type 1
clinical
cafe au lair spots
neurofibromas
plexiform neurofibroma
freckling in axilla
optic glioma
lisch nodule
osseous lesions
19
Neurofibromatosis type 1
mutation
NF1
neurofibromin tumor suppressor gene
loss of function
20
Neurofibromatosis type 1
chromosome
17q11.2
21
locus heterogeneity
mutation in more than one locus causing same clinical condition
22
locus heterogeniety example
autosomal dominant polycystic kidney disease
23
Autosomal dominant polycystic kidney disease
new mutation rate
5%
24
Autosomal dominant polycystic kidney disease
clinical
1. bilateral renal cysts
2. cysts in other organs
3. vascular abnormalities
4. end stage renal disease
25
Autosomal dominant polycystic kidney disease
mutation
PKD1 chromosome 16p13.3
PKD2 chromosome 4q22.1
polycystin 1 and 2
produces truncated protein
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familial hypercholesterolemia
new mutation rate
very low
27
familial hypercholesterolemia
clinical manifestations
high cholesterol
high LDL levels
xanthomas
premature coronary artery disease and death
28
familial hypercholesterolemia
mutations
1. LDLK
2. APOB
3. PCSK9
29
trinucleotide repeat disorders
1. expansion of segment of DNA consisting of 3 or more nucleotides
2. CAG
3. slipped mispairings
4. anticipation
5. parental transmission bias
6. AD, AR nd X-linked transmission
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