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33 Cards in this Set
- Front
- Back
achondroplasia - gene and common mutations?
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FGFR3
gly380Arg - 1138G>A (98%), 1138G>C (2%) GoF mutation that causes consitutive activation of receptor, which inhibits proliferation of chondrocytes at growth plate |
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gaucher - gene, AJ mutation and carrier rate?
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GBA @ 1q21
AJ: N370S - 1/18 carrier rate |
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hemophilia A - gene, common mutation
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F8 @ Xq28
allelic heterogeneity, but most common mutation is an intron 22 gnee inversion accounts for 1/2 of severe cases |
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factor V leiden - gene, mutation
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F5, Arg 506Gln
2-15% of Europeans |
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hemochromatosis - gene, 2 common mutations and their frequencies
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HFE @ 6p21.3
Cys282Tyr - 90-95% of pt are homozygous 5-10% are compound hets for Cys282Tyr and His63Asp carrier rate: 11% of whites carry Cys282Tyr 27% of " carry His63Asp |
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BRCA1 AJ mtn
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185delAG (1% carrier rate in AJ)
5382insC (0.4% carrier rate in AJ) |
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BRCA2 AJ mtn
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6174delT (1.2% carrier rate in AJ)
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fanconi anemia AJ mtn
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FancC IVS4+4A>T
1/89 carrier rate |
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bloom AJ mtn
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BLM @ 15q26.1
2281del6ins7 1/107 carrier rate |
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diastrophic dysplasia - gene, mutations
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SLC26A2 @ 5q32-33.1
5 common mutations: R279W IVS1+2T>C delV340 R178X C653S |
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sickle cell - gene, mutation
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HBB @ 11p15.5
Glu6Val |
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Hb C - gene, mutation
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HBB @ 11p15.5
Glu6Lys |
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prothrombin - gene, mutation
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F2 @ 11p11.2-12 (?)
G20210A |
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MTHFR - gene, mutation
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MTHFR
C677T - 11-33% of caucasian population |
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Crouzon - gene, mutation
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FGFR2 @ 10q26
A391E |
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Apert - gene, mutation
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FGFR2 @ 10q26
P253R S252W |
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MYH - associated polyposis - gene, mutations
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MYH @ 1p
Y165C G382D |
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MCAD - gene, mutation
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ACADM (medium chain acyl CoA dehydrogenase) @ 1p31
K304E |
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carnitine palmitoyl-transferase deficiency - gene, mutation
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CPTII @ 1p32
S113L (60%) |
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isovaleric acidemia - gene, mutation
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IVD @ 15q14
A282V (50%) |
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Canavan AJ mtn - gene, mtn
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ASPA @ 17pter
A285E Y231X |
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galactosemia - gene, classical mutation, duarte variant
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GALT @ 9p13
classical: Q188R (70%) Duarte: N314D |
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pallister-hall - gene, mutations
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GLI3 @ 7p13
2023delG 2012delG |
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Progeria (hutchinson-gilford syn) - gene, mutation
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LMNA @1q21.2
G608G (1824C>T) -- activates a cryptic splice site. |
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NARP and Leigh
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mtDNA T8993G
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LHON
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mtDNA 1178A>G in ND4 subunit of complex I is most common mtn
14459T>A, ND1 subunit - most severe mtn, less sex bias |
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MERRF
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tRNAlys point mutations, most common is 8344A>G
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MELAS
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tRNAlue, most common is 3243A>G
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deafness - mitochondrial
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1555A>G in 12S rRNA
7445A>G mtn in 12S rRNA |
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CPEO - chronic progressive external opthalmoplegia
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the MELAS mtn - 3243A>G in tRNAleu
large dels like KSS (5kb del) |
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Kearns-Sayre syndrome
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~5kb deletion
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Tay Sachs AJ allele and carrier rate
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1/27 carrier rate
3 alleles: 4bp insertion - 80% of alleles, exon 12 splice mtn 10-15%, gly269ser 2-3% |
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Alkaptonuria
HGD |
AR
AA disorder, in phe/tyr pathway homogentisic acid builds up excreted in urine - oxidized - dark ochronosis (>30yo) - build up and darkening of connective tissue, cartilage arthritis (>20yo) also: renal stones, prostate stones, aortic or mitral valve calcification tests: urinalysis of HGA levels using GC-MS |