SOHLH1基因突变与原发性不孕不育的相关性

• 作 者: 李珊珊 刘丽英 周晓航 郭毅
• 机 构: 沈阳市妇婴医院生殖中心,辽宁沈阳,110001
• 出 处: 解剖科学进展
• 发表日期: 2017年5期
• 关键词: Infertility SOHLH1 mutation single nucleotide polymorphism

目的 探讨SOHLH1基因突变与原发性不孕不育的相关性.方法 运用聚合酶链反应(PCR)和基因测序等方法,对72对原发性男性不育及女性不孕患者及72名已婚育的对照男性和72名已生育的对照女性进行SOHLH1基因外显子区突变筛查及生物信息学分析.结果 检索验证发现5处单核苷酸多态性(SNPs)改变和9处新发杂合突变,其中1处新发突变c.890 C＞A位于第7号外显子,突变的丝氨酸(Ser)位于DNA结合结构域上游,该改变可能影响其下游调控基因的转录活性,进而导致不孕不育的发生.结论 7号外显子的c.890 C＞A突变可能为不孕不育患者SOHLH1基因新发突变,该突变可能引起男性不育及女性不孕.“,”Objective To explore the relationship between SOHLH1 mutations and primary infertility.Methods The SOHLH1 mutations in 72 pairs of primary infertility couple-patients and 72 male and female controls were retrospectively analyzed by using polymerase chain reaction(PCR) and sanger sequencing.Results 5 single nucleotide polymorphism(SNPs) and 9 novel heterozygous variants were identified.One alteration c.890 C ＞ A (S297Y) in exon 7 in the DNA binding domain of the upstream may affect the transcriptional activity of the downstream gene,leding to the occurrence of infertility.Conclusion c.890 C＞A (S297Y) mutation in SOHLH1 gene may be involved in infertility.