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目的:探讨人类Y染色体无精子症因子C区(AZFc)部分缺失对男性精子生成的影响。方法:选择Y染色体AZFc区9个序列标签位点(STS)sY1258、sY1291、sY254、sY255、sY1201、sY1206、sY1161、sY1197、sY1191,以ZFX/ZFY(X/Y连锁锌指蛋白基因)和SRY(sY14)基因为内对照。对160例Y染色体微缺失筛查均未发现缺失的无精子症及严重少精子症患者,76例正常生育男性DNA进行多重PCR扩增。疑有DAZ基因缺失的个体,采用基因单核苷酸变异分析(single nucleotide variants,SNV)技术,对DAZ基因4个拷贝中的单核苷酸多态位点进行检测,以确定DAZ基因的拷贝缺失类型。结果:160例无精子症及严重少精子症患者(病例组)gr/gr(sY1291)缺失10例,占6.3%;b2/b3(sY1191)缺失14例,占8.8%;新发现sY1291,sY1197缺失1例,占0.6%;b1/b2缺失1例,占0.6%;b1/b3缺失1例,占0.6%。76例正常生育男性(对照组)检出gr/gr缺失4例,占5.3%;b2/b3缺失4例,占5.3%。gr/gr缺失和b1/b3缺失(对照组和病例组)SNV分析均为DAZ1/DAZ2缺失;b2/b3缺失(对照组和病例组)SNV分析均为DAZ3/DAZ4缺失。1例sY1291,sY1197缺失的DAZ-SNVsY587位点缺失,1例b1/b2缺失者DAZ基因未缺失。结论:b2/b3(sY1191)缺失、gr/gr(sY1291)缺失在我国正常人群中多见,为基因组多态性;b1/b2缺失、b1/b3缺失和sY1291,sY1197缺失可能是导致精子生成障碍的高风险因子。
Objective: To investigate the effect of human Y chromosome azoospermia factor C (AZFc) partial deletion on male sperm production. Methods: Nine sequence tagging sites (STS) of sY1258, sY1291, sY254, sY255, sY1201, sY1206, sY1161, sY1197 and sY1191 in the AZFc region of Y chromosome were selected and their genotypes were analyzed by using ZFX / ZFY (zinc finger zinc finger protein) (sY14) gene as an internal control. A total of 76 cases of normal fertile male DNA were amplified by multiplex PCR in 160 cases of azoospermia and severe oligospermia patients with no deletion of Y chromosome microdeletions. Individuals suspected of having a deletion of the DAZ gene were examined for single nucleotide polymorphisms (SNPs) in four copies of the DAZ gene using single nucleotide variants (SNV) to determine the copy of the DAZ gene Missing type. Results: There were 10 cases (6.3%) of gr / gr (sY1291) in 160 cases of azoospermia and severe oligospermia (cases), 14 cases (8.8%) of b2 / b3 1 case was missing, accounting for 0.6%; 1 case was b1 / b2 deletion, accounting for 0.6%; 1 case was b1 / b3 missing, accounting for 0.6%. 76 cases of normal fertility men (control group) detected in 4 cases of gr / gr loss, accounting for 5.3%; b2 / b3 missing in 4 cases, accounting for 5.3%. SNPs in both the gr / gr deletion and the b1 / b3 deletion (control group and case group) were both DAZ1 / DAZ2 deletion; and b2 / b3 deletion (control and case group) SND analysis was DAZ3 / DAZ4 deletion. One case of sY1291, sY1197 deletion DAZ-SNVsY587 sites missing, a case of b1 / b2 deletion DAZ gene is not missing. CONCLUSION: The deletion of b2 / b3 (sY1191) and deletion of gr / gr (sY1291) are more common in Chinese normal population and are genomic polymorphisms. The deletion of b1 / b2, the deletion of b1 / b3 and the deletion of sY1291 and sY1197 may result in spermatogenesis High risk factor for the disorder.