What genetic defects result in the disorder xeroderma pigmentosum (XP) in humans? How do these defects create the phenotypes associated with the disorder?
What genetic defects result in the disorder xeroderma pigmentosum
(XP) in humans? How do these defects create the
associated with the disorder?
Answer- Xeroderma pigmentosum is the autosomal recessive disorder that is caused by the mutation in genes that causes DNA repair.
Mutation is the alteration of DNA sequence that result in change in the genotype and phenotype of an organism. It is caused by mutagens. Mutagens can be physical, chemical substance like U.V. rays and nicotine can act as mutagens.
Most cells are able to repair themselves through DNA repair mechanisms. But in the patients suffering from xenoderma pigmentosum lack such DNA repair mechanism due to mutations in the genes that form enzymes responsible for repair.
This condition is characterized by extreme sensitivity for U.V. rays. Inflammation occurs when a patient get exposure of UV rays and primarily skin and eyes are affected.
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