What genetic inheritance pattern is associated with Xeroderma Pigmentosa?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Xeroderma Pigmentosa (XP) is primarily associated with an autosomal recessive inheritance pattern. This condition is characterized by extreme sensitivity to ultraviolet (UV) light, leading to a high risk of skin cancers and other skin abnormalities. The underlying cause of XP lies in mutations of genes responsible for nucleotide excision repair, which is a critical mechanism for repairing DNA damaged by UV exposure.

In individuals with XP, both copies of the responsible gene must be mutated for the disease to manifest, which aligns with the autosomal recessive inheritance. This means that an affected individual typically inherits one mutated gene from each carrier parent. The autosomal nature indicates that the genes involved are located on non-sex chromosomes, hence the condition can affect both males and females equally.

Understanding the inheritance pattern is crucial for genetic counseling, as individuals with a family history of XP would need to be aware of the risk for their offspring, particularly if both parents are carriers of a mutation.

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