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Classic Associations & Most Commons > Genetic Associations > Flashcards

Genetic Associations Flashcards

0
Q

5p-

Microdeletion of short arm of chr 5

A

Cri-du-Chat Sx

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1
Q

45 XO

A

Turner Sx

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2
Q

7-

Microdeletion of long arm of chr 7

A

Williams Sx

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3
Q

47 XXY

A

Klinefelter Sx

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4
Q

47 XYY

A

XYY Syndrome

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5
Q

69 XXX, 69 XXY or 69 XYY

Mech?

A

Partial Hydatidiform mole

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

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6
Q

δ-ALA Synthase gene

  • Defect -> ?
A
  • Congenital Sideroblastic Anemia (Microcytic)

XL defect

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7
Q

ALK

  • Activation -> ?
A
  • Bronchial or Bronchioloalveolar Adenocarcinoma
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8
Q

APC (chr 5q)

  • Mutation (“Two-Hit Hypothesis”) -> ?
    (AD)
  • Loss (‘Chr Instability Pathway’) ->
    (↑proliferation &↓intercel adhesion -> ?
A
  • Familial Adenomatous Polyposis (FAP)

- Normal Colon -> Colon with malignant risk

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9
Q

ATM

Mech of Defect, Seen In?

A

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

SEEN IN:
- Ataxia-Telangiectasia

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10
Q

BCL2 (inhibitor of apoptosis, chr 18)

  • t 14;18 -> Activation -> (2)?
A
  • (Tl of BCL2 gene on chr 18 -> heavy-chain Ig locus on chr 14)
    - Follicular Lymphoma
    - Diffuse Large B cell Lymphoma
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11
Q

BCR + ABL

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

Inhib By?

A
  • CML

INHIB BY: Imatinib

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12
Q

BMPR2 gene (inhibits vasc smooth muscle prolif)

  • Mutation (Inactivating) -> ?
A
  • Primary Pulm Htn
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13
Q

BRAF Kinase

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

Inhib By?

A
  • Malignant Melanoma

INHIB BY: Vemurafenib

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14
Q

BRCA1 + BRCA2

  • Mutations (single gene) -> ?
  • BRCA1 -> ?
  • BRCA2 -> ?
A
  • Ovarian Non-GC Serous Tumors
  • Breast Cancer
  • Male Breast Cancer
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15
Q

BTK

Classification, Defect -> ?

A

Tyrosine Kinase gene.

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

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16
Q

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

A

Cystic Fibrosis

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17
Q

C-Kit

Inhib By?

A

GI stromal tumors.

INHIB BY: Imatinib

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18
Q

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) -> ?
A
  • Mantle Cell Lymphoma
    (Tl of Cyclin D1 gene on chr 11 -> heavy-Chain Ig locus on chr 14)
  • Ewing’s Sarcoma
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19
Q

DMD (Dystrophin gene)

  • Deletion -> ?
  • Missense point mutation -> ?
A
  • Duchenne Muscular Dystrophy (truncated dystrophin protein) or Becker
  • Becker Muscular Dystrophy

** Loss of dystrophin -> MYONECROSIS **

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20
Q

DMPK gene (codes for Myotonin protein kinase)

  • CTG trinucleotide repeat expansion -> ?
A
  • Myotonic Type I Muscular Dystrophy
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21
Q

EGFR

Drug that Targets?

  • Activation -> ?
A
  • Bronchial or Bronchioloalveolar Adenocarcinoma

Ceftuximab

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22
Q

Elastin gene (chr 7)

  • Congenital microdeletion of long arm of chr -> ?
A
  • William Sx
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23
Q

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

A

Breast Cancer

  • Responds to Anti-Estrogenic agents + Trastuzumab / Herceptin *
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24
Q

FBN1 (codes for fibrillin, chr 15)

A

Marfan Sx

25
Q

FGFR3 (Fibroblast GF Receptor 3)

  • Activating mutation -> ?
A
  • Achondroplasia

Activating mutation -> GF overexpression -> Growth INHIB

26
Q

FMR1 gene

  • X-linked defect (affecting gene expression and methylation) -> ?
A
  • Fragile X Sx
27
Q

Frataxin

Function, Path / Seen In?

A

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

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

28
Q

Her2 / Neu (codes for Estrogen GF receptor)

A

Breast Cancer

29
Q

HFE mutation

A

Hemochromatosis

30
Q

JAK2 Kinase (hematopoietic-GF signaling)

  • Mutation -> (3)?
A
  • Polycythemia Vera (PV)
  • Essential Thrombocythemia (ET)
  • Myelofibrosis (50% of cases)
31
Q

K-ras

  • Activation -> ?
  • Mutation (-> unregulated intracel signal transduction) -> ?
A
  • Bronchial or Bronchioloalveolar Adenocarcinoma

- Colorectal Adenoma

32
Q

LYST (Lysosomal Trafficking Regulator)

Mech of Defect, Seen In?

A

MECH: Microtubule dysfunction in phagosome-lysosome fusion.

SEEN IN:
- Chediak-Higashi Sx

33
Q

Myc

  • General Amplification -> ?
  • C-Myc (chr 8)- t 8;14 -> Activation -> ?
  • N-Myc -> ?
A
  • Small Cell / Oat Cell Carcinoma
  • Burkitt’s Lymphoma
    (Tl of c-myc gene on chr 8 -> heavy-chain Ig locus on chr 14)
  • Neuroblastoma
34
Q

NF1 (chr 17)

A

Neurofibromatosis Type I

35
Q

NF2 (chr 22)

A

Neurofibromatosis Type II

36
Q

PKD1 (chr 16) + PKD2 (chr 4)

A

ADPKD (PKD1 in 85% of cases)

37
Q

p53

↑destruction by (protein)?

  • Germline Mutation -> ?
  • Mutations -> ?
  • Loss (->↑tumorgenesis) -> ?
A

E6 protein (produced by HPV) ↑destruction of p53.

  • Li-Frameuni Sx
  • Endometrial Carcinoma (Sporadic Pathway)
  • Colorectal Carcinoma
38
Q

Rb (chr 13)

↑destruction by (protein)?

  • -> ?
A

E7 protein (produced by HPV) ↑destruction of Rb.

  • Osteosarcoma
39
Q

Retinoic Acid Receptor (RAR) gene (BM cell maturation, chr 17)

  • Translocation (15;17) -> ?
A
  • APL (Tl of RAR gene on chr 17 -> chr 15)

[ => RAR DISRUPTION: blocks BM cell maturation -> blasts (promyelocytes) accumulate.]

40
Q

Ret mutation

A

MEN 2A + 2B

AD

41
Q

VHL (tumor suppressor gene, chr 3)

  • Deletion -> ?
A
  • Von Hippel-Lindau Sx
42
Q

WAS

  • Mutation -> ?
A
  • Wiskott-Aldrich Sx
43
Q

WT1 + WT2 (tumor suppressor genes, chr 11)

  • Loss of Function mutations -> (3) ?
A
  • Wilms Tumor
  • WAGR Sx
  • Beckwith-Wiedemann Sx
44
Q

Inactivations

Genes on Chr 15 -> (2) ?

A
  • Angelman’s Sx (Imprinting)

- Prader-Willi Sx (Uniparental Disomy)

45
Q

Nondisjunctions

  • Maternal Meiotic ND -> ?
  • Paternal Meiotic ND -> ?
  • Meiotic ND of homologous chr -> ?
A
  • Klinefelter’s Sx
  • Double Y male
  • Down Sx
46
Q

Translocations

  • t (8;14) -> ?
  • t (9;22) = Philadelphia Translocation -> ?
    * ** “Philadelphia CreaML cheese” ***
  • t (11;14) -> ?
  • t (11;22) -> ?
  • t (14;18) -> (2) ?
  • t (15;17) -> ?
A
  • Burkitt Lymphoma (c-myc gene ACTIVATION)
  • CML (bcr-abl FUSION / HYBRID)
  • Mantle Cell Lymphoma (cyclin-D1 gene ACTIVATION)
  • Ewing’s Sarcoma
  • Follicular Lymphoma (bcl-2 gene ACTIVATION)
  • Diffuse Large B cell Lymphoma
  • M3 AML (RAR DISRUPTION)
47
Q

Heavy-Chain Ig (chr 14)- Translocations (3)

  • t (8;14) -> ?
  • t (11;14) -> ?
  • t (14;18) -> ? (2)
A
  • Burkitt’s Lymphoma
  • Mantle Cell Lymphoma
  • Diffuse Large B cell Lymphoma + Follicular Lymphoma
48
Q

Robertsonian Translocation

Def’n, MC Chr Involved (5), 2 Types?

A

NONRECIPROCAL chr translocation.
Occurs when long arms of 2 acrocentric chr fuse at centromere
-> short arms lost.

MC involves chr (pairs) 13, 14, 15, 21, 22.

  • Balanced Translocation (don’t usually cause abnormal phenotype)
  • Unbalanced Translocation -> miscarriage, stillbirth, chr imbalance
    (ie Down Sx, Patau Sx)
49
Q

DNA Repair Disorders

Inheritance (incl 2 EXCEPTIONS)?

A

AR.

EXCEPT Hereditary Breast Cancer + HNPCC (AD).

50
Q

Missense DNA Mutations

Seen In?

A

SEEN IN:

- Sickle Cell Dz

51
Q

Frameshift DNA Mutations

Seen In?

A

SEEN IN:

- Duchenne Muscular Dystrophy

52
Q

Trisomies

  • Trisomy 13 -> ?
  • Trisomy 18 -> ?
  • Trisomy 21 -> ?
A
  • Patau Sx
  • Edwards Sx
  • Down Sx
    (95% cases due to meiotic ND of homologous chr)
53
Q

Trinucleotide Repeat Expansions

  • CAG -> ?
  • CGG -> ?
  • CTG -> ?
  • GAA -> ?
A
  • Huntington Dz
  • Fragile X Sx
  • Myotonic Dystrophy
  • Friedrich Ataxia
54
Q

22q11 Deletion Sx

Mech, Pres (5: “CATCH-22”), 2 Sx, Comp (2)?

A

MECH: Aberrant devel of 3rd+ 4th branchial pouches.

PRES:

  • Cleft palate
  • Abnormal facies
  • Thymic aplasia -> T cell def
  • Cardiac defects
  • Hypocalcemia (due to parathyroid aplasia)
  • DiGeorge Sx: Thymus, Parathyroid + Cardiac defects
  • Velocardiofacial Sx: Facial, Palate + Cardiac defects

COMP:

  • Tetralogy of Fallot
  • Truncus Arteriosus
55
Q

3 Lysosomal Storage Diseases with↑Incidence in Ashkenazi Jews (3)

A
  • Gaucher Dz (some forms)
  • Niemann-Pick Dz
  • Tay-Sachs Dz
56
Q

Autosomal Dominant Diseases (12)

A
  • Achondroplasia
  • ADPKD
  • Familial Adenomatous Polyposis
  • Familial Hypercholesterolemia
  • Hereditary Hemorrhagic Telangiectasia
  • Hereditary Spherocytosis
  • Huntington’s Dz
  • Marfan’s Sx
  • MEN
  • NF Type 1 + Type 2
  • Tuberous Sclerosis
  • VHL Dz
57
Q

Autosomal Recessive Diseases (10)

THINK: Infants + Enzyme def

A
  • Albinism
  • ARPKD
  • Cystic Fibrosis
  • Glycogen Storage Dz
  • Mucopolysaccharides (EXCEPT Hunter’s)
  • PKU
  • Sickle Cell Anemias
  • Sphingolipidoses (EXCEPT Fabry’s)
  • Thalassemias
58
Q

X-Linked Recessive Diseases (9)

  • THINK: “Be Wise, Fool’s GOLD Heeds Hope*
  • Female carriers rarely affected
A
  • Bruton’s Agammaglobulinemia
  • Wiskott-Aldrich Sx
  • Fabry’s Dz
  • G6PD def
  • Ocular Albinism
  • Lesch-Nyhan Sx
  • Dystrophies (Becker’s + Duchenne’s)
  • Hemophilia A + B
  • Hunter’s Sx
59
Q

Genetic Intellectual Disability

1st + 2nd MCC?

A

1st MCC = Down Sx

2nd MCC = Fragile X Sx

60
Q

HEME

Point Mutations

  • AR. β chain of Hb, position 6:
    - (glutamic acid -> lysine)?
    - (glutamic acid -> valine)?
A
  • HbC Defect
  • Sickle Cell Anemia
    • ** Protective against falciparum malaria***

Classic Associations & Most Commons (12 decks)

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