广州地区不育男性Y染色体无精子因子微缺失的筛查

目的探讨Y染色体无精子因子(azoospermia factor,AZF)区域微缺失与原发无精、严重少精症之间的关系。方法采用多重聚合酶链反应技术对广州地区103例原发无精子症、72例原发严重少精症患者及60名正常生育男性进行AZFa、AZFb、AZFc3个区域微缺失分析。结果60名正常生育男性未发现Y染色体AZF区域微缺失,175例生精障碍患者中发现AZF微缺失19例,总缺失率为10.9%。其中11例无精症患者和4例少精症患者的缺失发生在AZFc区域,缺失率为8.6%;1例无精症患者和2例少精症患者发生AZFb、AZFc双重缺失,缺失率为1.7%;1例无精症患者发生AZFa、b、c3个区域同时微缺失,缺失率0.6%。生精障碍组与正常生育男性组比较Y染色体AZF区域微缺失率差异具有统计学意义(P<0.01)。结论Y染色体AZF区域微缺失是引起男性无精、少精子症的重要原因之一,对原发无精、少精子症患者在单精子注射之前进行微缺失筛查是必要的。

Screening for the microdeletions of azoospermia factor on the Y chromosome in male infertile patients from Guangzhou

Objective To investigate the relationship between microdeletion of azoospermia factor(AZF) and male infertility.Methods Multiplex PCR was used to detect Y chromosome microdeletion in AZFa,AZFb and AZFc in 103 cases of idiopathic azoospermia,72 cases of severe idiopathic oligozoospermia,and 60 healthy male controls.Results No microdeletion was found in 60 controls.Y chromosome microdeletion was found in 19 of 175 azoospermia patients,the total prevalence rate of microdeletion was 10.9%.There were 15 cases(11 for azoospermia,4 for severe oligozoospermia) in AZFc(8.6%),3 cases(1 for azoospermia,2 for severe oligozoospermia) in AZFb c(1.7%),1 case(azoospermia) in AZFa b c(0.6%).According to statistics,the difference of microdeletion rate between two groups was significant(P<0.01).Conclusion Y chromosome microdeletions is an important reason of azoospermia.Screening of Y chromosome microdeletions for azoospermia patients before intracytoplasmic sperm injection treatment is essential.