Abstract

In diverse organisms from yeast to mice, mutations in numerous genes required for DNA repair may lead to defects in meiosis. Although it is likely that meiosis is conserved throughout evolution, little is known about the genetics of meiosis in humans even though meiotic arrest associated with azoospermia is common. In this work, we compared the sequence fidelity of a polymorphic marker amplified from DNA of two groups of patients: those with testis biopsy suggesting meiotic arrest and those with normal spermatogenesis who were obstructed. We demonstrated that mutations are more common in DNA from testicular tissue derived from men with meiotic arrest than in DNA from testicular tissue derived from men with normal spermatogenesis and physical obstruction (P < 0.05). No mutations were observed in blood tissue from either group of men. This suggests the possibility that defects in genes required in DNA repair could contribute to meiotic arrest in men just as has been observed in other organisms.