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Medical Genetics > Inherited Disease > Flashcards

Inherited Disease Flashcards

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Biology 101 flashcards USMLE® Step 1 flashcards
1
Q

What is a congenital disease?

A

a disease present at birth

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2
Q

What is an acquired/somatic disease?

A

a disease not inherited/not present at birth

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3
Q

What are 2 examples of autosomal dominant disease?

A

Familial hypercholesterolemia
Huntingtons disease
Myotonic Dystrophy

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4
Q

What causes familial hypercholesterolemia?

A

mutation in LDL receptor

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5
Q

What causes Huntington’s disease?

A

trinclueotide repeats (CAG)

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6
Q

What is the incidence of familial hypercholesterolemia?

A

1 in 500

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7
Q

What is the incidence of Huntington’s disease?

A

1 in 10,000

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8
Q

What is penetrance?

A

proportion of individuals that have the genotype that display the phenotype (show features of the disease)

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9
Q

What is Expressivity?

A

Phenotypic variability and severity across individuals with a given genotype

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10
Q

Give 2 examples of Autosomal recessive diseases?

A

Cystic Fibrosis

Phenylketonuria

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11
Q

What causes Cystic Fibrosis?

A

Mutation in the CFTR gene

Cystic fibrosis transmembrane conductance regulator

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12
Q

What is the incidence of CF?

A

1 in 2,500

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13
Q

What is the incidence of phenylketonuria?

A

1 in 10,000

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14
Q

What form of inheritance exhibits no male to male transmission?

A

X-linked recessive

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15
Q

What form of inheritance only affects females and why?

A

X-linked dominant

males die

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16
Q

What is meant by the term Hemizygous?

A

only a single copy pf a gene e.g. male x chromosome

17
Q

What is meant by the term X-Inactivation?

A

one of the copies of the X chromosome present in females is inactivated.

18
Q

Give 2 examples of X-linked recessive diseases?

mainly affects males

A
  • Haemophiia (A+B)
  • Duchenne Muscular Dystrophy
  • Fragile X syndrome
19
Q

Give an example of an X-linked dominant disease?

mainly affects females

A
  • Rett syndrome
20
Q

What is De Novo dominant Disease?

A

Sporadic disease caused by new mutation in sperm/egg

21
Q

What is mosaicism?

A

Presence of 2 genotypes/ different genetic sub types

in somatic cells

22
Q

Give 3 examples of trinucleotide repeat disorders?

A

Huntingtons disease
Fragile X syndrome
Myotonic dystrophy

23
Q

What are the trinucleotide repeats in Fragile X syndrome?

A

CGG

24
Q

What are the trinucleotide repeats in Huntington’s disease?

A

CAG

25
Q

What are the trinucleotide repeats in Myotonic Dystrophy?

A

CTG

26
Q

What is the incidence of Fragile X Syndrome?

A

1 in 5,000

27
Q

What is the incidence of Myotonic Dystrophy?

A

1 in 8,000

28
Q

What is the normal number of of repeats in healthy individuals?

A

5-37 copies

Medical Genetics (2 decks)

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