河南汉族人群男性不育与Y染色体缺失相关性分析

Analysis of relationship between Y chromosome microdeletions and male infertility in Han people of Henan population

目的探讨男性特发性无精子症和少精子症与Y染色体无精子症因子(AZF)微缺失的关系。方法采用聚合酶链反应技术对208例特发无精子症与少精子症患者和183例正常男性及10例正常女性Y染色体上AZF基因(STS)上的3个位点SY86、SY127、SY254及内参基因SRY、ZFY进行检测。结果 208例无精子症与少精子症患者中共检出Y染色体微缺失25例,缺失率为12.02%。其中48例无精症患者中发现10例(20.8%),160例少精症患者中发现15例(9.38%)。183例正常男性未检测出微缺失,10例正常女性仅有ZFY片段。结论 AZF缺失是特发性无精子症和少精子症造成男性不育的重要原因之一,对无精子症和少精子症患者有必要进Y染色体微缺失的常规检测。

Objective To evaluate the relationship between Y chromosome azoospermia factor（AZF） microdeletion and idiopathic azoospermia / oligospermia in males.Methods The three sites including SY86,SY127,SY254 and SRY,ZFY regions of Y chromosome in 208 cases of idiopathic azoospermic and oligozoospermic,183 normal male control,10 normal female control were detected by STS-PCR.Results Microdeletions were detected in 12.02%（25/208） infertile men with idiopathic azoospermia or oligozoo spermia,which 10 cases（20.8%） were found in 48 azoospermic patients and 15 cases（9.38%） were found in 160 oligozoospermic patients.183 cases of fertile men did not detect the microdeletions;10 cases of normal women only have ZFY fragment.Conclusions The microdeletion of AZF is a major cause of idiopathic azoospermia and oligozoospermia leading to male infertility.It is necessary to carry out the routine screening of Y chromosome microdeletion to the idiopathic azoospermia /oligoseprmia patients.