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Abstract To screen genes related to azoospermia by exome sequencing technology, and to enrich male infertility gene pool. Methods：Peripheral blood of 20 patients with azoospermia was collected, and DNA was extracted from their peripheral blood. DNA libraries were constructed by hybrid capture methods, and highthroughput sequencing technology was used to detect the exon regions and flanking contents of 20099 genes in the human exome subregion (20bp), the sequencing data was compared with the human genome hg19 reference sequence, and the mutant genes were screened. The mutation sites were verified by Sanger sequencing. Results：A total of 43 mutation sites of 26 genes were screened out, and 15 autosomal recessive single mutation sites and 13 mutation sites related to sperm motility were excluded. The remaining 15 mutation sites of 11 genes may be related to the disorders of spermatogenesis, which included 5 genes, such as FAM71B, STARD9, CLTCL1, PCBP3, S100PBP, were high expression in testicular tissue. And 6 genes including SYCE3, EFCAB6, DDX4, KDM5D, RGS22, and MTL5 could be related to spermatogenesis disorders. Conclusion：The genes that may affect male infertility have be screened in this research, which can provide evidence for the genetic diagnosis of male infertility.
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