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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
Q

Allelic heterogeneity

A

Different mutations in the same locus produce the same phenotype.

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26
Q

Heteroplasmy

A

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease.

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27
Q

Uniparental disomy

A

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.

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28
Q

Menkes disease

A

XL - defective ATP7A - decreased lysyl oxidase activity - kinky brittle hair, growth retardation, hypotonia

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29
Q

HNPCC/Lynch Syndrome

A

DNA mismatch repair mutation (MLH1, MSH2, MSH6, PMS2)

30
Q

Von Recklinghausen

A

NF1 - neurofibromas, optic nerve gliomas, cafe au lait spots

31
Q

Sturge-Weber

A

leptomeningial and facial angiomas (portwine stains), tramtrack calcifications of skull

32
Q

Tuberous sclerosis

A

AD - hamartomas - kidney, liver, pancreas cysts and CNS involvement

33
Q

Hirshsprung Disease

A

defective RET gene

34
Q

Osler-Weber-Rendu

A

hereditary hemmoraghic telangiectasia - musoca involvement

35
Q

Wiskott-Aldrich syndrome

A

triad of eczema, recurrent infections, thrombocytopenia

36
Q

Fragile X syndrome

A

FMR1 gene - CGG trinucleotide repeats

37
Q

Myotonic type 1 muscular dystrophy

A

AD - CTC trinucleotide repeat

38
Q

Rb

A

tumor suppressor gene - active (hypophosphorylated) stops G1/S transition - holds back E2F - hyperphosphorylated in retinoblastoma, osteosarcoma

39
Q

p53

A

inducer of apoptosis - Li Fraumeni

40
Q

bcl2

A

inhibits apoptosis - BAX

41
Q

K-ras

A

proto-oncogene

42
Q

c-myc

A

nuclear phosphoprotein, transcription activator for proliferation/differentiation/apoptosis - Burkitt lymphoma

43
Q

t(8:14)

A

c-myc:Ig - Burkitt lymphoma

44
Q

t(9:22)

45
Q

t(11:14)

A

cyclin-D1:Ig - mantle cell lymphoma

46
Q

t(14:18)

A

Ig:bcl-2 - follicular lymphoma

47
Q

t(15:17)

A

PML:RARa - acute promyelocytic leukemia

48
Q

BCR-ABL

A

Tyrosine kinase - CML, ALL

49
Q

BRAF

A

Serine/threonine kinase - Melanoma, non-Hodgkin lymphoma

50
Q

c-kit

A

Cytokine growth factor receptor - Gastrointestinal stromal tumor (GIST)

51
Q

HER2/neu (c-erbB2)

A

Tyrosine kinase - Breast, ovarian, and gastric carcinomas

52
Q

L-myc

A

Transcription factor - Lung tumor

53
Q

N-myc

A

Transcription factor - Neuroblastoma

54
Q

RAS

A

GTPase - Colon cancer, lung cancer, pancreatic cancer

55
Q

RET

A

Tyrosine kinase -
gain of function - MEN 2A and 2B, medullary thyroid cancer
loss of function - Hirschsprungs

56
Q

APC

A

Colorectal cancer (associated with FAP)

57
Q

BRCA1/BRCA2

A

Breast and ovarian cancer - DNA repair protein

58
Q

DCC

A

Colon cancer - DCC—Deleted in Colon Cancer

59
Q

DPC4/SMAD4

A

Pancreatic cancer - DPC—Deleted in Pancreatic Cancer

60
Q

MEN1

A

MEN 1 Menin

61
Q

NF1

A

NeuroFibromatosis type 1 - Ras GTPase activating protein (neurofibromin)

62
Q

NF2

A

NeuroFibromatosis type 2 - Merlin (schwannomin) protein

63
Q

p16

A

Melanoma - Cyclin-dependent kinase inhibitor 2A

64
Q

p53

A

Li-Fraumeni syndrome - Transcription factor for p21, blocks G1 Ž S phase

65
Q

PTEN

A

Breast cancer, prostate cancer, endometrial

66
Q

TSC1

A

Tuberous sclerosis - Hamartin protein

67
Q

TSC2

A

Tuberous sclerosis - Tuberin protein

68
Q

VHL

A

AD - ubiquitin ligase component - hemangioblastomas in retina/cerebellum, cysts/neoplasms in kidney, liver, pancreas, renal cell carcinoma - Inhibits hypoxia inducible factor 1a -

69
Q

WT1/WT2

A

Wilms Tumor (nephroblastoma)

70
Q

t(11:22)

A

Ewings Sarcoma - EWS-FLI 1

71
Q

mRNA polyadenylation 3’

A

3’ end with AAUAAA, cleaves pre-RNA a few bits downstream and adds 20-250 adenosine residues (poly A tail)

72
Q

mRNA 5’ cap

A

add guanine triphosphate to 5’ –> catalyzed by guanylyltransferase –> methylation by guanine-7-methyltransferase –> 7-methylguanosine - prevents degradation

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