江西地区3364例优生优育咨询患者Y染色体微缺失分

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中国生育健康杂志 ›› 2019, Vol. 30 ›› Issue (4) : 374-377.

遗传与出生缺陷

江西地区3364例优生优育咨询患者Y染色体微缺失分

卢婉,刘艳秋,陆清,吴兴武

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摘要

目的探讨Y染色体微缺失在优生遗传咨询中的临床意义和诊断男性不育的临床价值。方法采用实时荧光定量PCR技术对2016年12月至2018年4月就诊于江西省妇幼保健院的有生育需求的3 364例男性优生遗传咨询患者及男性不育症患者进行Y染色体无精症因子（AZF）检测，患者年龄22~53岁，不育年限为1~14年。按生育史分为已生育组和未生育组，进行AZF基因检测和精液常规分析。结果 3 364例患者中诊断为男性不育症者有1 291例，已生育者329例，未生育者3 035例。共发现33例患者存在AZF基因微缺失，2例来自已生育组，缺失率为0.6%（2/329）；31例来自未生育组，缺失率为1.0%（31/3 035）。在1 291例男性不育症患者中，发现30例存在AZF基因微缺失，缺失率为2.3%（30/1 291）。此外，33例AZF基因微缺失患者中，有26例患者存在AZFc区域缺失，6例患者存在AZFb+c区域的缺失，还有1例患者存在AZFa+b+c区域的组合缺失。结论江西地区Y染色体微缺失发生率处于人群平均水平，其检测有助于为男性不育的临床诊断提供科学依据，可以为育龄夫妻确定良好的诊疗方案。

关键词

优生遗传 / 男性不育 / Y染色体微缺失 / 无精症因子(AZF)

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卢婉,刘艳秋,陆清,吴兴武. 江西地区3364例优生优育咨询患者Y染色体微缺失分[J]. 中国生育健康杂志, 2019, 30(4): 374-377

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