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Flashcards in Genetic Associations Deck (61)
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45 XO

Turner Sx

1

5p-
(Microdeletion of short arm of chr 5)

Cri-du-Chat Sx

2

7-
(Microdeletion of long arm of chr 7)

Williams Sx

3

47 XXY

Klinefelter Sx

4

47 XYY

XYY Syndrome

5

69 XXX, 69 XXY or 69 XYY

Mech?

Partial Hydatidiform mole

MECH: Normal ovum fertilized by 2 sperm = Mat & Pat in origin.

6

δ-ALA Synthase gene

- Defect -> ?

- Congenital Sideroblastic Anemia (Microcytic)
(XL defect)

7

ALK

- Activation -> ?

- Bronchial or Bronchioloalveolar Adenocarcinoma

8

APC (chr 5q)

- Mutation ("Two-Hit Hypothesis") -> ?
(AD)

- Loss ('Chr Instability Pathway') ->
(↑proliferation &↓intercel adhesion -> ?

- Familial Adenomatous Polyposis (FAP)
- Normal Colon -> Colon with malignant risk

9

ATM

Mech of Defect, Seen In?

MECH: DNA double-strand breaks -> Cell Cycle ARREST.

SEEN IN:
- Ataxia-Telangiectasia

10

BCL2 (inhibitor of apoptosis, chr 18)

- t 14;18 -> Activation -> (2)?

- (Tl of BCL2 gene on chr 18 -> heavy-chain Ig locus on chr 14)
- Follicular Lymphoma
- Diffuse Large B cell Lymphoma

11

BCR + ABL

- Fusion / Hybrid (Philadelphia Translocation: t 9;22) -> ?

Inhib By?

- CML

INHIB BY: Imatinib

12

BMPR2 gene (inhibits vasc smooth muscle prolif)

- Mutation (Inactivating) -> ?

- Primary Pulm Htn

13

BRAF Kinase

- Mutation (Activating) -> ? (ie BRAF V600E)

Inhib By?

- Malignant Melanoma

INHIB BY: Vemurafenib

14

BRCA1 + BRCA2

- Mutations (single gene) -> ?
- BRCA1 -> ?
- BRCA2 -> ?

- Ovarian Non-GC Serous Tumors
- Breast Cancer
- Male Breast Cancer

15

BTK

Classification, Defect -> ?

Tyrosine Kinase gene.

Defect -> X-Linked / Bruton Agammaglobulinemia (B-cell disorder)

16

CFTR (codes for Cl channel that secretes Cl in lungs + GI tract and reabsorbs Cl in sweat glands, chr 7)

Cystic Fibrosis

17

C-Kit

Inhib By?

GI stromal tumors.

INHIB BY: Imatinib

18

Cyclin D1 (G1 - S transition in cell cycle = facilitator of neoplastic prolif, chr 11)- Translocations (2)

- t (11;14) -> Cyclin D1 Activation -> ?
- t (11;22) -> ?

- Mantle Cell Lymphoma
(Tl of Cyclin D1 gene on chr 11 -> heavy-Chain Ig locus on chr 14)
- Ewing's Sarcoma

19

DMD (Dystrophin gene)

- Deletion -> ?
- Missense point mutation -> ?

- Duchenne Muscular Dystrophy (truncated dystrophin protein) or Becker
- Becker Muscular Dystrophy

*** Loss of dystrophin -> MYONECROSIS ***

20

DMPK gene (codes for Myotonin protein kinase)

- CTG trinucleotide repeat expansion -> ?

- Myotonic Type I Muscular Dystrophy

21

EGFR

Drug that Targets?

- Activation -> ?

- Bronchial or Bronchioloalveolar Adenocarcinoma

Ceftuximab

22

Elastin gene (chr 7)

- Congenital microdeletion of long arm of chr -> ?

- William Sx

23

Erb-B2 (protooncogene on chr 17, codes for Estrogen + Progesterone receptors)

Breast Cancer

* Responds to Anti-Estrogenic agents + Trastuzumab / Herceptin *

24

FBN1 (codes for fibrillin, chr 15)

Marfan Sx

25

FGFR3 (Fibroblast GF Receptor 3)

- Activating mutation -> ?

- Achondroplasia
(Activating mutation -> GF overexpression -> Growth INHIB)

26

FMR1 gene

- X-linked defect (affecting gene expression and methylation) -> ?

- Fragile X Sx

27

Frataxin

Function, Path / Seen In?

Mitochondrial Fe regulation.
(Loss -> Fe BUILDUP -> Free Radical damage ->
Mitoch impairment)

PATH:
(AR) GAA trinucleotide repeat expansion in its gene ->
Friedreich's Ataxia

28

Her2 / Neu (codes for Estrogen GF receptor)

Breast Cancer

29

HFE mutation

Hemochromatosis