非梗阻性无精子症患者X染色体连锁的TEX11基因多态性研究

Study on X chromosome-linked TEX11 gene polymorphisms in non-obstructive azoospermia patients

目的明确潮州地区男性非梗阻性无精子症患者X染色体连锁的TEX11基因多态性类型及其频率。方法从2012年6月至2018年5月来本院泌尿外科和生殖医学科就诊的患者中收集到217例无精子症患者血液样本,列为实验组的35例患者符合非梗阻性无精子症的诊断标准,以生精(生育能力)正常男性为对照组,应用多重聚合酶链反应(PCR)技术对实验组和对照组的TEX11基因进行扩增,并通过基因测序检测TEX11基因多态性情况,采用Chromas软件、Nucleotide BLAST数据库分析比对基因测序结果,对TEX11基因多态性的位点和类型进行统计。结果实验组TEX11外显子错义突变点有2处,分别是Exon 7:c.389 A>G,突变率37.1%;Exon 17:c.1351 G>A,突变率8.6%。对照组中发现Exon7、Exon 17也有相同位点突变,突变率分别为:37.5%、8.3%。2组之间差异无统计学意义(P>0.05)。结论在非梗阻性无精子症患者和生精正常男性都发现了TEX11外显子2个相同单核苷酸多态性(SNP)(Exon 7:c.389 A>G;Exon 17:c.1351 G>A),本研究推论这2种突变不影响TEX11的功能。

Objective To identify the types and frequencies of X⁃Linked TEX11 polymorphisms of male non⁃obstructive azoospermia patients in Chaozhou.Methods From June 2012 to May 2018,217 patients with azoospermia were collected from patients admitted to the Department of Urology and Reproductive Medicine of our hospital.The 35 patients listed in the experimental group were eligible for non⁃obstructive azoospermia.The diagnostic criteria were normal men with spermatogenesis(fertility)as the control group.Multiplex polymerase chain reaction(PCR)technology was used to amplify the TEX11 gene in the experimental group and the control group,and TEX11 gene polymorphism was detected by gene sequencing.The Chromas software and Nucleotide BLAST database were used to analyze and compare the results of gene sequencing,and the loci and types of TEX11 gene polymorphism were counted.Specimens with missense mutations were marked.Results In the experimental group,there were two missense mutations in exon TEX11,namely Exon 7:c.389 A>G,with a mutation rate of 37.1%;Exon 17:c.1351 G>A,with a mutation rate of 8.6%.Exon7 and Exon 17 were found to have the same mutations in the control group,with mutation rates of 37.5%and 8.3%,respectively.There was no statistical difference between the two groups.Conclusion Two identical single nucleotide polymorphisms(SNPs)of TEX11 exon were found in patients with non⁃obstructive azoospermia and men with normal spermatogenesis(Exon 7:c.389 A>G;Exon 17:c.1351 G>A).This study concluded that these two mutations did not affect the function of.