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First Aid Biochemistry > Genetic Disease Associated with Chromosome > Flashcards

Genetic Disease Associated with Chromosome Flashcards

1
Q

Collagen Type 1 found?

A

Most common (90%)

  • Bone (made by osteoblasts)
  • Skin
  • Tendon
  • dentin
  • fascia
  • cornea
  • late wound repair
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2
Q

Type 2 collagen found?

A
  • Cartilage (including hyaline)
  • vitreous body
  • nucleus pulposus
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3
Q

Type 3 collagen found?

A
  • Reticulin
    • skin
    • blood vessels
    • uterus
    • fetal tissue
    • granulation tissue
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4
Q

Type 4 collagen found?

A
  • Basement membrane
  • basal lamina
  • lens
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5
Q

Genetic Disorders on Chromosome 3

A
  • von Hippel- Lindau disease
  • Renal cell carcinoma
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6
Q

Genetic disorders on chromosome 4?

A
  • ADPKD (PKD2)
  • achondroplasia
  • Huntington disease
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7
Q

Genetic disorders on chromosome 5

A
  • Cri-du-chat syndrome
  • familial adenomatous polyposis
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8
Q

Genetic disorder on chromosome 6?

A

Hemochromatosis (HFE)

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9
Q

Genetic disorder on chromosome 7?

A
  • Williams syndrome
  • Cystic fibrosis
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10
Q

Genetic disorder of chromosome 9?

A
  • Friedreich ataxia
  • Tuberous sclerosis (TSC1)
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11
Q

Genetic disorder of chromosome 11?

A
  • Wilms tumor
  • Beta-globin gene defects
    • sickle cell
    • beta thalassemia
  • MEN 1
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12
Q

Genetic disorder of Chromosome 13?

A
  • Patau syndrome
  • Wilson disease
  • Retinoblastoma (RB1)
  • BRCA2
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13
Q

Gentic disorder of chromosome 15?

A
  • Prader-Willi syndrome
  • Angelman syndrome
  • Marfan syndrome
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14
Q

Genetic disorder of chromosome 16?

A
  • ADPKD (PKD1)
  • alpha-glbin gene defects
    • alpha-thalassemia
  • Tuberous sclerosis (TSC2)
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15
Q

Genetic disorders of chromosome 17?

A
  • Neurofibromatosis type 1
  • BRCA1
  • p53
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16
Q

Genetic disorder of chromosome 18?

A

Edwards syndrome

17
Q

Genetic disorder of chromosome 21?

A

Down syndrome

18
Q

Genetic disorder of chromosome 22?

A
  • Neurofibromatosis type 2
  • DiGeorge syndrome (22q11)
19
Q

Genetic disorder of X chromosome?

A
  • Fragile X syndrome
  • X-linked agammaglobulinemia
  • Klinefelter syndrome (XXY)

First Aid Biochemistry (2 decks)

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