Genetics

Question 1

Inheritance of CAH

Answer 1

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

Question 2

Inheritance of Kalmans syndrome

Answer 2

X-linked recessive
KAL1 gene
Hypogonadotrophic hypogonadism and anosmia

Question 3

Klinefelter’s syndrome genetic abnormality

Answer 3

47xxy or 46xy/47xxy (mosaic)

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

Question 4

Inheritance and association of CaSR gene

Answer 4

Familial Hypocalcuric hypercalcaemia

Autosomal dominant

Question 5

APOE4 gene association

Answer 5

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

Question 6

APP gene mutation association

Answer 6

Early onset AD

Question 7

PSEN1/2 gene association

Answer 7

Early onset AD

Autosomal dominant

Question 8

APOE2 gene association

Answer 8

Protective for AD

Question 9

Inheritance of MYH associated polyposis

Answer 9

Autosomal recessive, 80% penetrance

Question 10

What condition are HLA DR3/DR4 associated with?

Answer 10

T1DM

Question 11

HLA-DRB1*0404, 0401, 0405 association

Answer 11

RA

Number of genes associated with severity

Question 12

HNPCC: Gene, inheritance and associated cancers

Answer 12

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

Colon, endometrial, gastric, small intestine, urothelial

Question 13

Neurofibromatosis Type 1: Gene, inheritance and associated cancers

Answer 13

NF1 (Autosomal dominant)

Neurofibroma, optic nerve glioma, neurofibrosarcoma

Question 14

Familial retinoblastoma: Gene, inheritance and associated cancers

Answer 14

RB1 s(Autosomal dominant)

Bilateral retinoblastoma

Question 15

Familial adenomatous polyposis: Gene, inheritance and associated cancers

Answer 15

APC (Autosomal dominant)

> 100 colonic adenomas, CRC, Upper GI cancer

Question 16

Von Hippel-Lindau: Gene, inheritance and associated cancers

Answer 16

VHL (Autosomal dominant)

Clear cell RCC, phaeochromocytomas, haemangioblastomas, pancreatic NETs

Question 17

Li-Fraumeni: Gene, inheritance and associated cancers

Answer 17

p53 (Autosomal dominant)

Sarcoma, breast cancer, brain tumours, leukaemia

Question 18

MEN 1: Gene, inheritance and associated cancers

Answer 18

MEN1 (Autosomal dominant)

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

Question 19

MEN2a: Gene, inheritance and associated cancers

Answer 19

RET (Autosomal dominant)

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

Question 20

MEN2b: Gene, inheritance and associated cancers

Answer 20

RET (Autosomal dominant)

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

Question 21

Achondroplasia: Gene and inheritance

Answer 21

FGFR3

Autosomal Dominant

Question 22

PCKD: Gene and inheritance

Answer 22

PKD1, PKD2

Autosomal Dominant

Question 23

Brugada: Gene and inheritance

Answer 23

SCN5A

Autosomal Dominant

Question 24

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

Answer 24

Duplication in PMP22

Autosomal Dominant

Question 25

DiGeorge Syndrome: Gene and inheritance

Answer 25

22q11.2 deletion | Autosomal Dominant

Question 26

Familial hypercholesterolaemia: Gene and inheritance

Answer 26

LDLR, ApoB, PCSK9 | Autosomal Dominant

Question 27

Haemochromatosis: Gene and inheritance

Answer 27

C282Y, H63D mutations of HFE | Autosomal Recessive

Question 28

Hereditary spherocytosis: Gene and inheritance

Answer 28

Band 3 deficiency in RBC membrane | Autosomal Dominant

Question 29

Huntington's disease: Gene and inheritance

Answer 29

CAG triplet repeat | Autosomal Dominant

Question 30

Marfan's: Gene and inheritance

Answer 30

Fibrillin deficiency | Autosomal Dominant

Question 31

Myotonic Dystrophy: Gene and inheritance

Answer 31

Type 1: DPMK gene, Type 2L CNBP gene | Autosomal Dominant

Question 32

Noonan syndrome: Gene and inheritance

Answer 32

PTPN11 | Autosomal Dominant

Question 33

Osteogenesis imperfecta: Gene and inheritance

Answer 33

COL1A1, COL1A2 | Autosomal Dominant

Question 34

Peutz-Jeghers syndrome: Gene and inheritance

Answer 34

STK11 | Autosomal Dominant

Question 35

Tuberous sclerosis: Gene, inheritance and associated cancers

Answer 35

TSC1, TSC2 Autosomal Dominant Sarcoma, rhabdomyoma, renal angiomyolipoma

Question 36

Wilson's disease: Gene and inheritance

Answer 36

ATP7B | Autosomal Recessive

Question 37

VWF Type 1: Gene and inheritance

Answer 37

VWF gene | Autosomal Dominant

Question 38

A1AT deficiency: Gene and inheritance

Answer 38

SERPINA1 | Autosomal recessive, but codominance of different mutations may present

Question 39

Cystic fibrosis: Gene and inheritance

Answer 39

CFTR, deltaF508 mutation most common | Autosomal recessive

Question 40

Friedreich ataxia: Gene and inheritance

Answer 40

GAA triplet repeat | Autosomal recessive

Question 41

Sickle cell syndrome: inheritance

Answer 41

Autosomal recessive

Question 42

SCID: Gene and inheritance

Answer 42

Adenosine deaminase deficiency | Autosomal recessive

Question 43

Spinal muscular atrophy: inheritance

Answer 43

Autosomal recessive

Question 44

Duchenne and Becker Muscular dystrophy: Gene and inheritance

Answer 44

Dystrophin | X-linked recessive

Question 45

Fragile X syndrome: Gene and inheritance

Answer 45

FMR1 CGG triplet repeat X-linked recessive

Question 46

G6PD deficiency: inheritance

Answer 46

X-linked recessive

Question 47

Haemophilia: types and inheritance

Answer 47

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

Question 48

Alport syndrome: defect and inheritance

Answer 48

Type IV collagen defect | X-linked dominant

Question 49

List the triplet repeat disorders

Answer 49

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

Question 50

MYD88 gene association

Answer 50

Waldenstrom's macroglobulinaemia

Question 51

UGT1A1 gene association

Answer 51

Gilbert's syndrome | UGT1A1 mutation if bilirubin UDPG enzyme

Question 52

TREX1 gene mutation

Answer 52

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

Question 53

HLA associated with allopurinol hypersensitivity

Answer 53

HLA-B*5801

Question 54

HLA associated with Carbamazepine hypersensitivity

Answer 54

HLA-B*1502

Question 55

HLA associated with Abacavir hypersensitivity

Answer 55

HLA-B*5701

Question 56

Lynch Syndrome Genes

Answer 56

``` MLH1 MSH2 MSH6 PMS2 EPCAM ```