Y染色体AZFc部分缺失和全缺失对精子发生的影响

Effect of partial and complete gene AZFc deletion on human spermatogenesis

目的研究Y染色体AZFc部分缺失(gr/gr缺失、b2/b3缺失)和AZFc全缺失(b2/b4缺失)对精子发生的影响。方法实验组选择非梗阻性无精子症者458例,对照组选择符合卫生部标准的汉族合格捐精者301例。所有受试者均抽取外周血,抽提DNA,选择Y染色体序列标签位点(STS),经多重PCR技术检测Y染色体AZFc部分缺失与全缺失,对结果进行统计学分析。结果实验组AZFc部分缺失为:gr/gr缺失41例(8.9%),b2/b3缺失11例(2.4%);AZFc全缺失5例(1.1%)。对照组AZFc部分缺失:gr/gr缺失23(8.6%)例,b2/b3缺失7例(2.3%);未发现AZFc全缺失。两组比较,AZFc全缺失差异显著(P<0.05);AZFc部分缺失(gr/gr缺失、b2/b3缺失)发生率无显著性差异(P>0.05)。结论汉族男性Y染色体AZFc部分缺失(gr/gr、b2/b3缺失)在非梗阻性无精子症患者和正常捐精者中都存在,但无统计学意义,不能作为精子发生障碍的危险因子。AZFc全缺失(b2/b4缺失)则引起严重的生精功能障碍,可作为精子发生障碍的危险因子之一。

Objective To study the effect of complete gene AZFc deletion and partial gene AZFc deletion during spermatogenesis. Methods Different types of Y chromosome specific sequence tagged sites （STS） were screened and the gr/gr, b2/b3 and b2/b4 deletion were determined by multiplex PCR in blood DNA samples from 458 males with idiopathic non-obstructive azoospermia （NOA） and 301 donors from sperm bank. Results Type of gr/gr deletion was detected in 41 cases of 458 males with NOV（8.9% ） and 23 cases of 301 donors （8.6%）. Type of b2/b3 deletion was found in 11 cases of 458 males with NOV （2.4%） and 7 cases of 301 donors （2.3%）. According to statistics, the difference was not significant in two groups （P〉0. 05）.b2/b4 deletion only found in infertile group （5/458）. Conclusion Our data suggested that type of gr/gr deletion and b2/b3 deletion was not a risk factor for spermatogenesis failure, which might be a kind of polymorphism of Y chromosome during the history of evolution in the human being. However, type of B2/b4 deletion might be one of the risk factors of spermatogenesis failure.