【摘要】 目的探讨Y染色体AZFc区部分缺失多态性与原发性男性生精障碍的相关性。方法运用单重及多重PCR技术,对252例正常生精男性、430例原发性生精障碍患者(170例原发性少精和260例原发性无精)进行Y染色体AZFc区及其附近的11个序列标签位点(Sequence tagged sites,STS)进行缺失筛查,对发生gr/gr缺失的个体运用SFVs(sequence family variants)法检测DAZ基因拷贝缺失的位置。结果SY1291-gr/gr-DAZ1/DAZ2缺失在正常生精组、原发性少精症组和原发性无精症组中的缺失率分别为2.0%、8.8%和7.7%。SY1291-gr/gr-DAZ3/DAZ4缺失在正常生精组、原发性少精症组和原发性无精症组中的缺失率分别为3.2%、2.9%和1.5%;SY1191-b2/b3-DAZ3/DAZ4在正常生精组、原发性少精症组和原发性无精症组中的缺失率分别为6.3%、2.4%和1.9%。b2/b4重组缺失的个体都为原发性无精症患者,缺失率为4.2%。SY1291-gr/gr-DAZ1/DAZ2、SY1191-b2/b3-DAZ3/DAZ4和b2/b4重组缺失在正常生精组与生精障碍组间缺失率差异的P值分别为0.001、0.004和0.009和,差异均有统计学意义。SY1291-gr/gr-DAZ3/DAZ4缺失在正常生精组与生精障碍组间缺失率差异的P值为0.382,差异无统计学意义。结论男性Y染色体AZFc区存在多种部分缺失多态性。SY1291-gr/gr-DAZ3/DAZ4缺失可能对生精功能的影响较小,仅是一种基因组多态,SY1291-gr/gr-DAZ1/DAZ2和SY1191-b2/b3-DAZ3/DAZ4缺失是男性生精障碍的高风险因子,b2/b4重组缺失是男性生精障碍的病因。更多还原

【Abstract】 Objective:To investigate the correlation between the partial deletions polymorphism in the AZFc region of Y chromosome and male novel spermatogenic impairment.Methods:In 252 men with normal spermatogenesis,170 oligospermic and 260 azoospermic patients,we exerted duplex and monoplex PCR technology to screen the deletions of 11 STS sites in AZFc locus and this vicinities.To samples with gr/gr recombinogenic deletion,we applied SFVs method to identify which DAZ gene copies doublet deletion was resulted.Results:The frequencies of SY1291-gr/gr-DAZ1/DAZ2,SY1291-gr/gr-DAZ3/DAZ4 and SY1191-b2/b3-DAZ3/DAZ4 deletions are 2.0%,8.8% and 7.7% in normal spermatogenesis group;3.2%,2.9% and 1.5% in novel oligospermic group;6.3%,2.4% and 1.9% in novel azoospermic group respectively.It is in novel azoospermic patients with b2/b4 recombinogenic deletion and the frequency is 4.2%.Normozoospermic group versus novel spermatogenic impairment group,the P values of diversity SY1291-gr/gr-DAZ1/DAZ2,SY1191-b2/b3-DAZ3/DAZ4 and b2/b4deletion rate are 0.001,0.004 and 0.009,there are significant differences.But SY1291-gr/gr-DAZ3/DAZ4 deletions,between normozoospermic group and novel spermatogenic impairment group,P value is 0.382,there is not significant deferences.Conclusion:Our results showed that there are higher frequent deletions resulted by Amplicons homologous recombination of uniform Amplicons in the Y chromosome.SY1291-gr/gr-DAZ3/DAZ4 deletion may be affect slightly men spermatogenesis and exist as a kind of genomic polymorphism.SY1291-gr/gr-DAZ1/DAZ2 and SY1191-b2/b3-DAZ3/DAZ4 deletion are the high risk factor to male infertility,The deletion of b2/b4 is the cause which would result men’s novel spermatogenic failure.更多还原