Microdeletions at DYS448 and DYS387S1 associate with increased risk of male infertility.

Male infertility affects many people of reproductive age. Diagnosis and therapies based on descriptive semen parameters have helped some of the infertility patients; however, further progress in reproductive therapy demands a better understanding of the molecular and genetic causes for male infertility. Although Y chromosome microdeletions have been a hot subject of genetic studies on male infertility, the relationship between male infertility and microdeletions at Y chromosome loci DYS448, DYS387, and DYS627 remains unclear. Here we analyzed the microdeletions at these three loci in 200 infertility male patients and 200 healthy subjects and showed that microdeletions at DYS448 and DYS387 correlate with male infertility. Our results suggest that genetic analyses of Y chromosome loci DYS448 and DYS387 can be genetic markers for reproductive diagnosis and therapy.