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Flashcards - Genetics

1
Q

Chromosome 3

A

von Hippel-Lindau disease, renal cell carcinoma

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2
Q

Chromosome 4

A

ADPKD with PKD2 defect, Huntington disease

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3
Q

Chromosome 5

A

Cri-du-chat syndrome, familial adenomatous polyposis

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4
Q

Chromosome 7

A

Williams syndrome, cystic fibrosis

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5
Q

Chromosome 9

A

Friedreich ataxia (GAA)

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6
Q

Chromosome 11

A

Wilms tumor

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7
Q

Chromosome 13

A

Patau syndrome, Wilson disease

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8
Q

Chromosome 15

A

Prader-Willi (paternal deletion) syndrome, Angelman (maternal deletion) syndrome

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9
Q

Chromosome 16

A

ADPKD with PKD1 defect

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10
Q

Chromosome 17

A

Neurofibromatosis type 1

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11
Q

Chromosome 18

A

Edwards syndrome

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12
Q

Chromosome 21

A

Down syndrome

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13
Q

Chromosome 22

A

Neurofibromatosis type 2, DiGeorge syndrome (22q11)

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14
Q

Chromosome X

A

Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY)

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15
Q

Codominance

A

Both alleles contribute to the phenotype of the heterozygote.

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16
Q

Variable expressivity

A

Phenotype varies among individuals with same genotype.

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17
Q

Incomplete penetrance

A

Not all individuals with a mutant genotype show the mutant phenotype.

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18
Q

Pleiotropy

A

One gene contributes to multiple phenotypic effects.

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19
Q

Anticipation

A

Increased severity or earlier onset of disease in succeeding generations.

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20
Q

Loss of heterozygosity

A

If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. This is not true of oncogenes.

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21
Q

Dominant negative mutation

A

Exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning.

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22
Q

Linkage disequilibrium

A

Tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance. Measured in
a population, not in a family, and often varies in different populations.

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23
Q

Mosaicism

A

Presence of genetically distinct cell lines in the same individual.
Somatic mosaicism—mutation arises from mitotic errors after fertilization and propagates through multiple tissues or organs.
Gonadal mosaicism—mutation only in egg or sperm cells.

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24
Q

Locus heterogeneity

A

Mutations at different loci can produce a similar phenotype.

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25
Allelic heterogeneity
Different mutations in the same locus produce the same phenotype.
26
Heteroplasmy
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease.
27
Uniparental disomy
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent. Heterodisomy (heterozygous) indicates a meiosis I error. Isodisomy (homozygous) indicates a meiosis II error or postzygotic chromosomal duplication of one of a pair of chromosomes, and loss of the other of the original pair.
28
Menkes disease
XL - defective ATP7A - decreased lysyl oxidase activity - kinky brittle hair, growth retardation, hypotonia
29
HNPCC/Lynch Syndrome
DNA mismatch repair mutation (MLH1, MSH2, MSH6, PMS2)
30
Von Recklinghausen
NF1 - neurofibromas, optic nerve gliomas, cafe au lait spots
31
Sturge-Weber
leptomeningial and facial angiomas (portwine stains), tramtrack calcifications of skull
32
Tuberous sclerosis
AD - hamartomas - kidney, liver, pancreas cysts and CNS involvement
33
Hirshsprung Disease
defective RET gene
34
Osler-Weber-Rendu
hereditary hemmoraghic telangiectasia - musoca involvement
35
Wiskott-Aldrich syndrome
triad of eczema, recurrent infections, thrombocytopenia
36
Fragile X syndrome
FMR1 gene - CGG trinucleotide repeats
37
Myotonic type 1 muscular dystrophy
AD - CTC trinucleotide repeat
38
Rb
tumor suppressor gene - active (hypophosphorylated) stops G1/S transition - holds back E2F - hyperphosphorylated in retinoblastoma, osteosarcoma
39
p53
inducer of apoptosis - Li Fraumeni
40
bcl2
inhibits apoptosis - BAX
41
K-ras
proto-oncogene
42
c-myc
nuclear phosphoprotein, transcription activator for proliferation/differentiation/apoptosis - Burkitt lymphoma
43
t(8:14)
c-myc:Ig - Burkitt lymphoma
44
t(9:22)
bcr:abl
45
t(11:14)
cyclin-D1:Ig - mantle cell lymphoma
46
t(14:18)
Ig:bcl-2 - follicular lymphoma
47
t(15:17)
PML:RARa - acute promyelocytic leukemia
48
BCR-ABL
Tyrosine kinase - CML, ALL
49
BRAF
Serine/threonine kinase - Melanoma, non-Hodgkin lymphoma
50
c-kit
Cytokine growth factor receptor - Gastrointestinal stromal tumor (GIST)
51
HER2/neu (c-erbB2)
Tyrosine kinase - Breast, ovarian, and gastric carcinomas
52
L-myc
Transcription factor - Lung tumor
53
N-myc
Transcription factor - Neuroblastoma
54
RAS
GTPase - Colon cancer, lung cancer, pancreatic cancer
55
RET
Tyrosine kinase - gain of function - MEN 2A and 2B, medullary thyroid cancer loss of function - Hirschsprungs
56
APC
Colorectal cancer (associated with FAP)
57
BRCA1/BRCA2
Breast and ovarian cancer - DNA repair protein
58
DCC
Colon cancer - DCC—Deleted in Colon Cancer
59
DPC4/SMAD4
Pancreatic cancer - DPC—Deleted in Pancreatic Cancer
60
MEN1
MEN 1 Menin
61
NF1
NeuroFibromatosis type 1 - Ras GTPase activating protein (neurofibromin)
62
NF2
NeuroFibromatosis type 2 - Merlin (schwannomin) protein
63
p16
Melanoma - Cyclin-dependent kinase inhibitor 2A
64
p53
Li-Fraumeni syndrome - Transcription factor for p21, blocks G1 Ž S phase
65
PTEN
Breast cancer, prostate cancer, endometrial
66
TSC1
Tuberous sclerosis - Hamartin protein
67
TSC2
Tuberous sclerosis - Tuberin protein
68
VHL
AD - ubiquitin ligase component - hemangioblastomas in retina/cerebellum, cysts/neoplasms in kidney, liver, pancreas, renal cell carcinoma - Inhibits hypoxia inducible factor 1a -
69
WT1/WT2
Wilms Tumor (nephroblastoma)
70
t(11:22)
Ewings Sarcoma - EWS-FLI 1
71
mRNA polyadenylation 3'
3' end with AAUAAA, cleaves pre-RNA a few bits downstream and adds 20-250 adenosine residues (poly A tail)
72
mRNA 5' cap
add guanine triphosphate to 5' --> catalyzed by guanylyltransferase --> methylation by guanine-7-methyltransferase --> 7-methylguanosine - prevents degradation

Step 1 (19 decks)

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