AZFc区部分缺失与原发性男性生精障碍的相关性研究

Study on the Association between the Partial Deletions in the AZFc Region of Y Chromosome and Male Novel Spermatogenic Impairment

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。

Objeetive： To investigate the eorrelation between the partial deletions polymorphism in the AZFe region of Y ehromosome and male novel spermatogenie impairment. Methods： In 252 men with normal spermatogenesis, 170 oligospermie and 260 azoospermie patients, we exerted duplex and monoplex PCR teehnology to screen the deletions of 11 STS sites in AZFe locus and this vieinities. To samples with gr/gr reeombinogenie deletion, we applied SFVs method to identify whieh DAZ gene eopies doublet deletion was resulted. Results： The frequeneies of SY1291 - gr/gr - DAZ1/DAT,2 SY1291 - gr/gr - DAZ3/DAZ4 and SYll91- 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 oligospermie group; 6.3%, 2.4% and 1.9% in novel azoospermie group respeetively. It is in novel azoospermie patients with b2/b4 reeombinogenie deletion and the frequeney is 4.2%. Normozoospermie group versus novel spermatogenie impairment group, the P values of diversity SY1291 - gr/gr - DAZ1/DAT2, SYll91 - b2/b3 - DAZ3/DAZ4 and b2/b4deletion rate are 0.001, 0.004 and 0. 009, there are signifieant differenees. But SY1291 - gr/gr - DAZ3/DAZ4 deletions, between normozoospermie group and novel spermatogenie impairment group, P value is 0.382, there is not signifieant deferenees. Conelusion： Our results showed that there are higher frequent deletions resulted by Amplieons homologous reeombination of uniform Amplieons in the Y ehromosome. SY1291 - gr/gr - DAZ3/DAZ4 deletion may be affeet slightly men spermatogenesis and exist as a kind of genomie polymorphism. SY1291 - gr/gr - DAZ1/DAT2 and SYll91 - b2/b3 - DAZ3/DATM deletion are the high risk faetor to male infertility, The deletion of b2/b4 is the eanse whieh would result men＇s novel spermatogenie failure.