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Step 1 Review > Important mutations > Flashcards

Important mutations Flashcards

1
Q

Papillary Thyroid Ca

A

RET

BRAF

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2
Q

Follicular Thyroid Ca

A

RAS
PAX-8
PPAR-gamma

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3
Q

Medullary Thyroid Ca

A

MEN 2A/2B - RET gene

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4
Q

MEN 1

  • Inheritance
  • Mutation
A

A.D.

Menin (tumor supressor gene on chrom 11)

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5
Q

Microdeletion of methyl-CpG binding protein 2 on X-chromosome

A

Rett Syndrome

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6
Q

Fragile X Syndrome:

  • Inheritance
  • Mutation
A 
X-linked dominant
Trinucleotide repeat (CGG) of FMR1 gene = methylation = decreased expression
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7
Q

Myotonic muscular dystrophy:

  • Inheritance
  • Mutation
A

Autosomal dominant

CTG trinucleotide repeat expansion in the DMPK gene

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8
Q

Becker’s muscular dystrophy:

  • Inheritance
  • Mutation
  • Age of ppt
A

X-linked
NON-frameshift deletion in dystrophin gene
Age: Adolescence or early childhood (>5y/o)

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9
Q

Duchenne’s muscular dystrophy

  • Inheritance
  • Mutation
  • Age of ppt
A

X-linked
Framshift or non-sense mutation in dystrophin gene
Age: <5 y/o

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10
Q

Cystic Fibrosis

  • Inheritance
  • Mutation
  • Chromosome affected
A

Autosomal recessive
Defect in CFTR protein - deletion of Phe508
Chromosome 7

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11
Q

Achondroplasia

  • Inheritance
  • Mutation
  • Chromosome
A

Autosomal dominant
Fibroblast growth factor 3 (FGFR3)
Chrom: 4

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12
Q

ADPKD

  • Inheritance
  • Mutation
  • Chromosome affected
A

A.D.
PKD1
Chromosome: 16

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13
Q

Familial adenomatous polyposis

  • Inheritance
  • Mutation
  • Chromosome affected
A

A.D.
APC gene
Chrom: 5q

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14
Q

Familial hypercholesterolemia

  • Inheritance
  • Mutation
A

A.D.

Defective or absent LDL receptor

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15
Q

Osler-Weber Rendu Syndrome

  • Other name
  • Inheritance
  • Mutation
A

A.D.
Hereditary Hemorrhagic Telangiectasia
Inherited disorder of blood vessels

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16
Q

Huntington Disease

  • Inheritance
  • Mutation
  • Chromosome affected
A

A.D.
Trinucleotide CAG repeat
Chrom: 4

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17
Q

Hereditary Spherocytosis

  • Inheritance
  • Mutation
A

A.D.

Spectrin or ankyrin defect

18
Q

Li-Fraumeni Syndrome

  • Inheritance
  • Mutation
A

A.D.

TP53

19
Q

Marfan Syndrome

  • Inheritance
  • Mutation
  • Chromosome affected
A

A.D.
FBN1 gene mutation - defective fibrillar
Chrom: 15

20
Q

MEN 2A

  • Inheritance
  • Mutation
A

A.D.

RET gene

21
Q

Neurofibromatosis type 1

  • Inheritance
  • Mutation
  • Chromosome affected
A

A.D.
NF1 gene
Chrom: 17

22
Q

Neurofibromatosis type 2

  • Inheritance
  • Mutation
  • Chromosome affected
A

A.D.
NF2 gene
Chrom: 22

23
Q

Tuberous sclerosis

  • Inheritance
  • Mutation
A

A.D.

TSC2 gene

24
Q

von Hippel-Lindau Syndrome

  • Inheritance
  • Mutation
  • Chromosome affected
A

A.D.
Deletion of VHL gene
Chrom: 3p

25
Q

Genetic disorder by chromosome: 3

A

von Hippel-Lindau

Renal cell Ca

26
Q

Genetic disorder by chromosome: 4

A

Huntington
ADPKD
Achondroplasia

27
Q

Genetic disorder by chromosome: 5

A

Cri-du-chat Syndrome (microdeletion 5p)

Familial adenomatous polyposis

28
Q

Genetic disorder by chromosome: 6

A

Hemochromatosis

29
Q

Genetic disorder by chromosome: 7

A 
Williams Syndrome (micro deletion 7q)
Cystic Fibrosis
30
Q

Genetic disorder by chromosome: 9

A

Friederich Ataxia

31
Q

Genetic disorder by chromosome: 11

A

Wilms tumor

ß-globin gene defects (Sickle cell, ß-thalassemia)

32
Q

Genetic disorder by chromosome: 13

A

Patau
Wilson disease
Retinoblastoma
BRCA 2

33
Q

Genetic disorder by chromosome: 15

A

Prader-Willi
Angelman
Marfan

34
Q

Genetic disorder by chromosome: 16

A

ADPKD

∂-globin gene defects (∂-thalassemia)

35
Q

Genetic disorder by chromosome: 17

A

Neurofibromatosis type 1

BRCA 1

36
Q

Genetic disorder by chromosome: 18

A

Edward Syndrome

37
Q

Genetic disorder by chromosome: 21

A

Down Syndrome

38
Q

Genetic disorder by chromosome: 22

A

Neurofibromatosis type 2

DiGeorge Syndrome

39
Q

Genetic disorder by chromosome: X

A

Fragile X
X-linked agammaglobulinemia
Klinefelter

40
Q

Chromosomes associated to Robertsonian translocation

A 
13
14
15
21
22

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