Molecular analysis of the PArkin co-regulated gene and association with male infertility.

Objective: To investigate the potential role of PArkin co-regulated gene (PACRG) in human male infertility.

Design: Case-control study.

Setting: Academic reproductive biology department.

Patient(s): Blood samples were obtained from 610 patients and 156 normal control subjects.

Intervention(s): Genomic DNA was used as template for polymerase chain reaction amplification of the PACRG promoter and coding exons. The amplified fragments were tested for DNA sequence variations by direct sequencing and restriction enzyme analysis.

Main Outcome Measure(s): Gene structure and sequence alterations of PACRG in infertile male patients.

Result(s): The structure of PACRG was determined to comprise 5 coding exons, generating a single transcript in the testis which encoded a predicted protein of 257 amino acids. No pathogenic mutations were identified; however, a variant in the promoter of PACRG was shown to be significantly associated with azoospermia, but not oligospermia, in the case-control cohort.

Conclusion(s): Mutation of PACRG was not identified as a cause of male infertility, but variation in the promoter was demonstrated to be a risk factor associated with azoospermia.