Zhang Xiaohui, Ding Min, Ding Xianping, Li Tianjun, Chen Honghan
Institute of Medical Genetics, College of Life Science, Sichuan University , Chengdu , China .
Syst Biol Reprod Med. 2015;61(4):187-93. doi: 10.3109/19396368.2015.1027014. Epub 2015 Jun 18.
Four genes involved in DNA double-strand break repair and chromosome synapsis, i.e., testis expressed gene 11 (TEX11), testis expressed gene 15 (TEX15), mutL homolog 1 (MLH1), and homolog 3 (MLH3), play critical roles in genome integrity, meiotic recombination, and gametogenesis. We explored the possible association between single nucleotide polymorphisms (SNPs) in these genes and idiopathic male infertility involving azoospermia or oligozoospermia. A total of 614 fertile control and infertile men were recruited to this study in Sichuan, China. The latter group included 244 men with azoospermia and 72 men with oligozoospermia. Six SNPs in the TEX11, TEX15, MLH1, and MLH3 genes were investigated in both patients and controls by sequencing. The frequency distributions of SNPs rs6525433, rs175080, rs6525433-rs4844247, and rs1800734-rs175080 were found to be significantly different between patients and control groups (p < 0.05), while rs4844247, rs323344, rs323346, and rs1800734 showed no significant difference between the two cohorts. Thus, the SNPs TEX11 rs6525433, MLH3 rs175080, rs6525433-rs4844247, and rs1800734-rs175080 might be associated with male infertility.
四个参与DNA双链断裂修复和染色体联会的基因，即睾丸表达基因11（TEX11）、睾丸表达基因15（TEX15）、错配修复蛋白1（MLH1）和错配修复蛋白3（MLH3），在基因组完整性、减数分裂重组和配子发生中发挥着关键作用。我们探讨了这些基因中的单核苷酸多态性（SNP）与涉及无精子症或少精子症的特发性男性不育之间的可能关联。在中国四川，共有614名生育力正常的对照者和不育男性被纳入本研究。后一组包括244名无精子症男性和72名少精子症男性。通过测序对患者和对照者的TEX11、TEX15、MLH1和MLH3基因中的六个SNP进行了研究。发现SNP rs6525433、rs175080、rs6525433 - rs4844247和rs1800734 - rs175080的频率分布在患者组和对照组之间存在显著差异（p < 0.05），而rs4844247、rs323344、rs323346和rs1800734在两组之间没有显著差异。因此，TEX11 rs6525433、MLH3 rs175080、rs6525433 - rs4844247和rs1800734 - rs175080这些SNP可能与男性不育有关。
