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Pathology (Mine) > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

What is the defect behind cystic fibrosis (CF)

A

Mutation of cloride channel protein (CFTR) located on chromosome 7

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2
Q

What is the genetic inheritance of CF?

A

Autosomal recessive (AR)

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3
Q

What is the genetic inheritance of phenylketouria (PKU)?

A

AR

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4
Q

What is the genetic inheritance of alkaptonuria?

A

AR

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5
Q

Examples of glycogen storage disorders?

A 
Type I (von Gierke disease)
Type II (Pompe disease)
Type V (McArdle syndrome)
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6
Q

What is the genetic inheritance of von Gierke disease?

A

AR

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7
Q

What is the genetic inheritance of pompe disease?

A

AR

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8
Q

What is the genetic inheritance of McArdle syndrome?

A

AR

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9
Q

What is deficient in von Gierke disease?

A

Glucose-6-phosphatase

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10
Q

What is deficient in pompe disease?

A

lysosomal alpha-1,4-glucosidase (acid maltase)

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11
Q

What is deficient in McArdle syndrome?

A

Muscle glycogen phosphorylase

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12
Q

What is the genetic inheritance of Tay-Sachs disease?

A

AR

Common in Ashkenazi Jews

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13
Q

What is deficient in Tay-Sachs disease?

A

Hexosaminidase A (due to mutation of HEXA gene on chromosome 15), which leads to the accumulation of GM2 ganglioside in the lysosomes of the CNS and retina.

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14
Q

What is the genetic inheritance of Niemann-Pick disease?

A

AR

Common in Ashkenzai Jews

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15
Q

What is deficient in Niemann-Pick disease?

A

Deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within the lysosomes of the CNS and reticuloendothelial system

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16
Q

What is the genetic inheritance of gaucher disease?

17
Q

What is deficient in gaucher disease?

A

Most common lysosomal storage disorder.
Deficiency of glucocerebrosidase leads to the accumulation of glucocerebroside, predominately in the lysosomes of the reticuloendothelial system.

18
Q

What is the genetic inheritance of familial hypercholesterolemia?

19
Q

What is the genetic inheritance of marfan syndrome?

20
Q

What is the genetic inheritance of Ehlers-Danlos syndrome?

21
Q

What is the genetic inheritance of neurofibromatosis?

22
Q

What is the genetic inheritance of von-Hippel-Lindau disease?

23
Q

What is the genetic inheritance of Lesch-Nyhan syndrome?

A

X-linked recessive

24
Q

What is the genetic inheritance of bruton agammaglobulinemia?

A

X-linked recessive

25
Q

What is the genetic inheritance of menkes disease?

A

X-linked recessive

26
Q

What is the genetic inheritance of Fragile X syndrome?

A

X-linked dominant

Due to triplet nucleotide repeat mutation (CGG)

27
Q

What is the genetic inheritance of huntington disease?

A

X-linked dominant

Due to triplet nucleotide repeat mutation (CAG)

Pathology (Mine) (17 decks)

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