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Biochem > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Trinucleotide Repeat Disorder- associated with: CGG

Chromosome?

A

Fragile X

Chromosome: X

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2
Q

Trinucleotide Repeat Disorder- associated with: GAA

Chromosome?

A

Fredrich Ataxia - chromosome 9

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3
Q

Trinucleotide Repeat Disorder- associated with: CAG

Chromosome?

A

Huntington’s Disease - chromosome 4

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4
Q

Trinucleotide Repeat Disorder- associated with: CTG

Chromosome? Gene name?

A

Myotonic Dystrophy
Chromosome: 19
Gene: DMPK

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5
Q

Robertsonian translocations usually occur on what pairs of chromosomes?

A

13, 14, 15, 21, and 22

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6
Q

Congenital microdeletion of short arm of chromosome 5 results in what?

A

Cri-du-chat syndrome

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7
Q

Elfin facies, intellectual disability, hypercalcemia. Congenital microdeletion of long arm of chromosome __ results in what?

A

Williams Syndrome - chromosome 7

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8
Q

Congenital microdeletion at 22q11 –> results in what?

A

DiGeorge Syndrome - thymus, parathyroid, and cardiac defects.
Velocardial syndrome - palate, facial, and cardiac defects.
(Assoc. with aberrant development of 3rd and 4th brachial pouches).

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9
Q

Most common human enzyme deficiency, X-linked recessive disorder. More prevalent among blacks–> increases material resistance. Denatured Hemoglobin ppts w/in RBCs due to oxidative stress. What are those also called?

A

Glucose-6-phosphate dehydrogenase deficiency

–> Heinz bodies. When those Heinz bodies are removed, by splenic macrophages, they are are called ‘Bite cells.’

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10
Q

Autosomal dominant. Mutation in NF1 gene on chromosome 17.

Neurocutaneous disorder café-au-lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas.

A

Von Recklinghausen disease - Neurofibromatosis type 1

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11
Q

Bilateral acoustic Schwannomas, juvenile cataracts, meningiomas, and ependymomas. Found on chromosome 22.

A

Neurofibromatosis type 2 - NF2 gene

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12
Q

X-Linked disorder typically due to frameshift mutation. Weakness in pelvic girdle muscles and progresses superiorly. Pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle. Dilated cardiomyopathy is most common cause of death. What gene is also involved?

A

Duchenne muscular dystrophy.

Gene: DMD

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13
Q

Chromosomal Disorders - Chromosome: 3

A
  • von Hippel-Lindau disease

- Renal cell carcinoma

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14
Q

Chromosomal Disorders - Chromosome: 4

A
  • ADPKD with PKD2 defect

- Huntington’s Disease

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15
Q

Chromosomal Disorders - Chromosome: 5

A
  • Cri-du-chat syndrome

- Familial adenomatous polyposis

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16
Q

Chromosomal Disorders - Chromosome: 7

A
  • Williams Syndrome

- Cystic Fibrosis

17
Q

Chromosomal Disorders - Chromosome: 9

A

-Friedreich ataxia

18
Q

Chromosomal Disorders - Chromosome: 11

A

Wilms tumor

19
Q

Chromosomal Disorders - Chromosome: 13

A
  • Patau syndrome

- Wilson Disease

20
Q

Chromosomal Disorders - Chromosome: 15

A
  • Prader-Willi Syndrome

- Angelman syndrome

21
Q

Chromosomal Disorders - Chromosome: 16

A

ADPKD and PKD1 defect

22
Q

Chromosomal Disorders - Chromosome: 17

A

Neurofibromatosis type 1

23
Q

Chromosomal Disorders - Chromosome: 18

A

Edwards Sindrome

24
Q

Chromosomal Disorders - Chromosome: 21

A

Down syndrome

25
Q

Chromosomal Disorders - Chromosome: 22

A
  • Neurofibromatosis type 2

- DiGeorge syndrome (22q11)

26
Q

Chromosomal Disorders - Chromosome: X

A
  • Fragile X Syndrome
  • X-linked agammaglobulinemia
  • Kleinfelter syndrome XXY
27
Q

What disease is being described: benign disease caused by deficiency of homogentisic acid oxidase. Patient has dark organs and dark connective tissue. Urine turns dark…. what is it?

A

Alkaptonuria

28
Q

What deficiency is seen in Galactosemia?

A

Galactose-1-phosphate Uridyltransferase

29
Q

What dietary restrictions should patients with homocysteinuria avoid?

A

Methionine

30
Q

What dietary restrictions should a patient with alkaptonuria avoid?

A

Tyrosine

31
Q

What three AAs should patients with BCAA (branched chain AA) avoid?

A

Leucine, isoleucine, valine

Biochem (4 decks)

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