[Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene].

Objective: To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP).

Methods: A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected.

[Polymorphisms of DNA damage repair genes and male infertility: Advances in researches].

The deficiency of the DNA repair mechanism may increase DNA damage in germ cells, leading to abnormal spermatogenesis and infertility. High-fidelity DNA repair is essential for maintaining the integrity and quality of the germ cell genome. Therefore, the DNA damage repair system is a key factor in the sperm production process.