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Which of the following genetic diseases affect DNA repair systems in humans?

1) retinoblastoma
2) Tay-Sachs disease
3) xeroderma pigmentosum
4) sickle-cell anemia
5) Cockayne syndrome

1 Answer

7 votes

Final answer:

3. Xeroderma pigmentosum and 5. Cockayne syndrome are the genetic diseases among the listed options that affect DNA repair systems, causing increased risk of cancer and developmental issues respectively.

Step-by-step explanation:

The genetic diseases that affect DNA repair systems in humans are 3) xeroderma pigmentosum and 5) Cockayne syndrome. Xeroderma pigmentosum (XP) patients have a defect in their nucleotide excision repair enzymes, making them unable to repair thymine dimers caused by UV light exposure. This leads to a high risk of contracting skin cancer. Cockayne syndrome also involves defects in DNA repair, specifically affecting transcription-coupled repair, leading to various developmental and neurological issues.

The genetic diseases that affect DNA repair systems in humans are:

Retinoblastoma: This is a cancer that affects the eye and is caused by mutations in the RB1 gene, which plays a role in DNA repair.

Xeroderma pigmentosum: This is a rare genetic disorder that impairs the body's ability to repair damage caused by ultraviolet (UV) light. People with xeroderma pigmentosum have a high risk of developing skin cancer.

Cockayne syndrome: This is a rare genetic disorder characterized by premature aging and extreme sensitivity to UV light. It is caused by mutations in genes involved in DNA repair.

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