Y chromosome microdeletion and causative candidate genes in 3 cases of non-obstructive azoospermic males of Guizhou Miao ethnic group
Objective To study Y chromosome microdeletion and pathogenic candidate gene mutations in azoospermic males of the Miao ethnic group in Guizhou.Methods Three males of Miao ethnic group with non-obstructive azoospermia were recruited in this study.The relevant gene regions were analyzed and annotated using target region capture sequencing and whole exome sequencing to detect Y chromosome microdeletion and pathogenic candidate loci.Results No Y chromosome microdeletion loci were found in three cases of Miao non-obstructive azoospermia.Whole-exome sequencing results showed the mutation loci in USP9Y,CFTR,ZMYND15,and DNAH1,which may be candidate pathogenic mutations for non-obstructive azoospermia in Miao ethnic group.Conclusion Non-obstructive Guizhou Miao males with negative Y chromosome microdeletions may have specific azoospermia-causing genes,which should be concerned in male infertility research and clinical practice.