Genetics Flashcards

1
Q

Classic galactosemia

A

Recessive

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2
Q

Lesch Nyhan

A

X linked- recessive

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3
Q

Fabry

A

X linked- recessive

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4
Q

Hemophilia B

A

X linked- recessive

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5
Q

G6PD

A

X linked- recessive

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6
Q

Dwarfism

A

Dominant

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7
Q

NFT1 and 2

A

Dominant

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8
Q

Fragile X

A

CGG

- Hypermethylation –> gene inactivation

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9
Q

Huntingtons

A

CAG

  • Histone deacetylation
  • CAG repeats lead to polyglutamine repeats in the protein coded by this gene
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10
Q

Friedrich’s Ataxia

A

GAA

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11
Q

Mitochondrial Diseases

A

(Heteroplasmy is responsible for the clinical variability)

  • Myoclonic Epilepsy w/ Ragged red fibers
  • Leber hereditary optic neuropathy
  • MELAS (mito encephalomyopathy with lactic acidosis and stroke like episodes)
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12
Q

Pleiotropy

A

Multiple phenotypes possible from a single mutation

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13
Q

Mosaicism

A

Nondisjunction during mitosis (problem with somatic cells not germ cells)

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14
Q

FAP

A

Auto Dominant

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15
Q

Familial Hypercholesterolemia (IIA)

A

Auto Dominant

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16
Q

Hereditary Spherocytosis

A

Auto Dominant

17
Q

Tuberous Sclerosis

A

Auto Dominant

18
Q

Von Hippel Lindau

A

Auto Dominant

19
Q

Oslers Weber Rendu

A

Auto Dominant

20
Q

Cystic Fibrosis

A

Auto Recessive

21
Q

Duchenne and Becker. Muscular Dystrophy

A

X linked recessive
Duchenne is frameshift
Becker is point mutation

22
Q

Ornithine transcarbamylase deficiency

A

X linked recessive

23
Q

Myotonic Muscular dystrophy

A

CTG repeat