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Basic Physician's Training Monash > Genetics > Flashcards

Genetics Flashcards

1
Q

Inheritance of CAH

A

Autosomal recessive
21OH deficiency
High androgen, low cortisol and aldosterone

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2
Q

Inheritance of Kalmans syndrome

A

X-linked recessive
KAL1 gene
Hypogonadotrophic hypogonadism and anosmia

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3
Q

Klinefelter’s syndrome genetic abnormality

A

47xxy or 46xy/47xxy (mosaic)

Small testis, gynaecomastia, tall, low libido, obesity, low facial hair

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4
Q

Inheritance and association of CaSR gene

A

Familial Hypocalcuric hypercalcaemia

Autosomal dominant

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5
Q

APOE4 gene association

A

Late-onset Alzheimer’s disease
OR 15 for developing AD
Most common genetic risk factor for AD

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6
Q

APP gene mutation association

A

Early onset AD

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7
Q

PSEN1/2 gene association

A

Early onset AD

Autosomal dominant

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8
Q

APOE2 gene association

A

Protective for AD

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9
Q

Inheritance of MYH associated polyposis

A

Autosomal recessive, 80% penetrance

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10
Q

What condition are HLA DR3/DR4 associated with?

A

T1DM

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11
Q

HLA-DRB1*0404, 0401, 0405 association

A

RA

Number of genes associated with severity

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12
Q

HNPCC: Gene, inheritance and associated cancers

A

MLH1, MSH2, MSH6, PMS2 (Autosomal dominant) - 80% penetrance

Colon, endometrial, gastric, small intestine, urothelial

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13
Q

Neurofibromatosis Type 1: Gene, inheritance and associated cancers

A

NF1 (Autosomal dominant)

Neurofibroma, optic nerve glioma, neurofibrosarcoma

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14
Q

Familial retinoblastoma: Gene, inheritance and associated cancers

A

RB1 s(Autosomal dominant)

Bilateral retinoblastoma

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15
Q

Familial adenomatous polyposis: Gene, inheritance and associated cancers

A

APC (Autosomal dominant)

> 100 colonic adenomas, CRC, Upper GI cancer

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16
Q

Von Hippel-Lindau: Gene, inheritance and associated cancers

A

VHL (Autosomal dominant)

Clear cell RCC, phaeochromocytomas, haemangioblastomas, pancreatic NETs

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17
Q

Li-Fraumeni: Gene, inheritance and associated cancers

A

p53 (Autosomal dominant)

Sarcoma, breast cancer, brain tumours, leukaemia

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18
Q

MEN 1: Gene, inheritance and associated cancers

A

MEN1 (Autosomal dominant)

(3 Ps) Pituitary adenomas, Parathyroid hyperplasia, pancreatic tumours

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19
Q

MEN2a: Gene, inheritance and associated cancers

A

RET (Autosomal dominant)

(1M, 2Ps) Parathyroid hyperplasia, Medullary thyroid, Phaechromocytoma

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20
Q

MEN2b: Gene, inheritance and associated cancers

A

RET (Autosomal dominant)

(3M, 1P) Marfanoid habitus, Mucosal neuroma, Medullary thyroid, Phaechromocytoma

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21
Q

Achondroplasia: Gene and inheritance

A

FGFR3

Autosomal Dominant

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22
Q

PCKD: Gene and inheritance

A

PKD1, PKD2

Autosomal Dominant

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23
Q

Brugada: Gene and inheritance

A

SCN5A

Autosomal Dominant

24
Q

Charcot-marie-tooth disease type 1: Gene and inheritance

A

Duplication in PMP22

Autosomal Dominant

25
Q

DiGeorge Syndrome: Gene and inheritance

A

22q11.2 deletion

Autosomal Dominant

26
Q

Familial hypercholesterolaemia: Gene and inheritance

A

LDLR, ApoB, PCSK9

Autosomal Dominant

27
Q

Haemochromatosis: Gene and inheritance

A

C282Y, H63D mutations of HFE

Autosomal Recessive

28
Q

Hereditary spherocytosis: Gene and inheritance

A

Band 3 deficiency in RBC membrane

Autosomal Dominant

29
Q

Huntington’s disease: Gene and inheritance

A

CAG triplet repeat

Autosomal Dominant

30
Q

Marfan’s: Gene and inheritance

A

Fibrillin deficiency

Autosomal Dominant

31
Q

Myotonic Dystrophy: Gene and inheritance

A

Type 1: DPMK gene, Type 2L CNBP gene

Autosomal Dominant

32
Q

Noonan syndrome: Gene and inheritance

A

PTPN11

Autosomal Dominant

33
Q

Osteogenesis imperfecta: Gene and inheritance

A

COL1A1, COL1A2

Autosomal Dominant

34
Q

Peutz-Jeghers syndrome: Gene and inheritance

A

STK11

Autosomal Dominant

35
Q

Tuberous sclerosis: Gene, inheritance and associated cancers

A

TSC1, TSC2
Autosomal Dominant

Sarcoma, rhabdomyoma, renal angiomyolipoma

36
Q

Wilson’s disease: Gene and inheritance

A

ATP7B

Autosomal Recessive

37
Q

VWF Type 1: Gene and inheritance

A

VWF gene

Autosomal Dominant

38
Q

A1AT deficiency: Gene and inheritance

A

SERPINA1

Autosomal recessive, but codominance of different mutations may present

39
Q

Cystic fibrosis: Gene and inheritance

A

CFTR, deltaF508 mutation most common

Autosomal recessive

40
Q

Friedreich ataxia: Gene and inheritance

A

GAA triplet repeat

Autosomal recessive

41
Q

Sickle cell syndrome: inheritance

A

Autosomal recessive

42
Q

SCID: Gene and inheritance

A

Adenosine deaminase deficiency

Autosomal recessive

43
Q

Spinal muscular atrophy: inheritance

A

Autosomal recessive

44
Q

Duchenne and Becker Muscular dystrophy: Gene and inheritance

A

Dystrophin

X-linked recessive

45
Q

Fragile X syndrome: Gene and inheritance

A

FMR1
CGG triplet repeat
X-linked recessive

46
Q

G6PD deficiency: inheritance

A

X-linked recessive

47
Q

Haemophilia: types and inheritance

A 
X-linked recessive:
A - Factor VIII deficiency
B - Factor IX deficiency
Autosomal recessive:
C - Factor XI deficiency
48
Q

Alport syndrome: defect and inheritance

A

Type IV collagen defect

X-linked dominant

49
Q

List the triplet repeat disorders

A

Friedreich’s Ataxia - GAA
Fragile X Syndrome - CGG
Huntington’s Disease - CAG
Myotonic dystrophy - CTG

50
Q

MYD88 gene association

A

Waldenstrom’s macroglobulinaemia

51
Q

UGT1A1 gene association

A

Gilbert’s syndrome

UGT1A1 mutation if bilirubin UDPG enzyme

52
Q

TREX1 gene mutation

A

SLE
Aicardi-Goutieres Syndrome (Early onset encephalopathy)
RVCL (Retinal vasculopathy with cerebral leukodystrophy)

53
Q

HLA associated with allopurinol hypersensitivity

A

HLA-B*5801

54
Q

HLA associated with Carbamazepine hypersensitivity

A

HLA-B*1502

55
Q

HLA associated with Abacavir hypersensitivity

A

HLA-B*5701

56
Q

Lynch Syndrome Genes

A 
MLH1
MSH2
MSH6
PMS2
EPCAM

Basic Physician's Training Monash (16 decks)

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