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严重少精子症和无精子症者Y染色体AZF区域微缺失的基因诊断筛查 被引量:1

Gene screening of microdeletions of azoospermia factor on Y chromosome for the patient with idiopathic azoospermia and severe oligozoospermia
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摘要 目的研究严重少精子症和无精子症与Y染色体无精子因子(AZF)微缺失之间的关系。方法采用多重聚合酶链反应技术对103例原发无精子症、72例原发严重少子精症患者及60例正常生育男性进行AZFa、AZFb、AZFc 3个区域微缺失分析。结果 60例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例无精子症患者和4例少精子症患者的缺失发生在AZFc区域,缺失率为8.6%;1例无精子症患者和2例少精子症患者发生AZFb、AZFc双重缺失,缺失率为1.7%;1例无精子症患者发生AZFa、b、c 3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显著性(P<0.01)。结论 Y染色体AZF区域微缺失是引起男性无子精症、少精子症的重要原因之一。采用多重聚合酶链反应技术对原发无精子症、少精子症患者在单精子注射(ICSI)之前进行微缺失筛查是必要的。 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 on 103 cases of idiopathic azoospermia,72 cases of severe idiopathic oligozoospermia,and 60 cases of healthy male controls.Results: No microdeletion was found in 60 controls.Y chromosome microdeletion was found in 19 of 175 azoospermia patients,the total p revalence rates of microdeletion was 10.9%.There were 15 cases(11 for azoospermia,4 for severe oligozoospermia)in AZFc(8.6%);3 case(1 for azoospermia,2 for severe oligozoo spermia) in AZFb+c(1.7%);1 case(1 for azoospermia) in AZFa+b+c(0.6%).According to statistics,the difference between two groups was significant(P0.001).Conclusion: Y chromosome microdeltions is an important reason of azoospermia,screening of Y chromosome microdeletions for azoospermia patients before ICSI treatment is essential.
出处 《中国优生与遗传杂志》 2012年第12期25-26,21,共3页 Chinese Journal of Birth Health & Heredity
基金 广东省科技计划项目 编号:2010B031600081
关键词 多重聚合酶链反应 无精子因子 微缺失 Multiplex PCR Azoospermia factor Microdeletion
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