精液液化相关基因单核苷酸多态性研究.docVIP

精液液化相关基因单核苷酸多态性研究 　　【摘要】 目的：旨在发现2～3个与精液液化异常相关的前列腺特异性抗原（PSA）基因单核苷酸多态性（SNP）标记，为临床上及早确诊先天性精液液化异常提供一种新的诊断方法，为进一步研究精液液化不良的分子机制和治疗精液液化异常提供理论基础。方法：选择2015年1月1日-5月30日本院生殖中心就诊的100例男性患者，按照精液液化时间分为对照组和研究组各50例，以两组患者外周血DNA为模板，PCR扩增PSA基因的5个外显子后进行测序，通过软件对比分析测序结果，寻找两组PSA基因SNP位点。结果：PSA基因的5个外显子中，外显子2、外显子3有突变，其他外显子无突变；两组外显子2和3检出率比较差异均无统计学意义（P0.05）；两组等位基因及其频率比较差异均无统计学意义（P0.05）；对照组的外显子2的基因型有CC、CT、TT，基因型频率分别为0、62.0%、36.0%，研究组的外显子2的基因型有CC、CT、TT，基因型频率分别为0、72.0%、28.0%，两组之间比较差异均无统计学意义（P0.05）。结论：对照组和研究组精液的液化与PSA基因的这些突变无相关性，可能是PSA基因的这些突变未引起PSA蛋白表达的改变，引起精液液化异常的原因还有待进一步的研究。 　　【关键词】 前列腺特异性抗原基因； 单核苷酸多态性； 精液液化 　　Semen Liquefaction Related Gene Single Nucleotide Polymorphisms Research/XIAO Su-mei，GAN Jian-ling，XIA Hua-qiang.//Medical Innovation of China，2016，13（17）：023-025 　　【Abstract】 Objective：To found that 2-3 PSA gene SNP markers associated with abnormal semen liquefaction，for the future clinical early diagnosis of congenital abnormal semen liquefaction provides a new diagnostic method，in order to further study the molecular mechanism of semen liquefaction which provides the theoretical foundation and treatment of abnormal semen liquefaction.Method：From January 1， 2015 to May 30，100 male patients in our reproductive center were selected，according to the semen liquefaction time were divided into control group and study group，each group had 50 cases，the peripheral blood DNA of the two groups as a template，PCR amplification of PSA gene sequencing，after five exons by sequencing software analysis results，looking for the control group and the team PSA gene single nucleotide polymorphism loci（SNP）.Result：Five PSA gene exon sino-foreign show son 2 mutations and mutation of exon 3，other exons without the mutation，the control group and the team exon 2 and 3 detection comparative differences had no statistical significance（P0.05）.The control group compared with the study group alleles and frequency difference had no statistical significance（P0.05）.Exon 2 genotype of the control group had CC， CT， TT，