| 刘文,何国平,宋雅娴,等.安徽地区1 163例男性不育患者Y染色体无精子因子基因微缺失分析[J].安徽医药,2016,20(11):2074-2077. |
| 安徽地区1 163例男性不育患者Y染色体无精子因子基因微缺失分析 |
| Azoospermia factor microdeletions on Ychromosome from 1163 male infertility patients in Anhui province |
| 投稿时间：2016-07-31 |
| DOI： |
| 中文关键词: 男性不育 无精子症 少精子症 无精子因子 Y染色体微缺失 |
| 英文关键词: Male infertility Azoospermia Oligozoosperm Azoospermia factor Y chromosome microdeletions |
| 基金项目:国家自然科学基金面上项目(81370749) |
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| 中文摘要: |
| 目的 通过分析安徽地区1 163例不育男性的Y染色体无精子因子(AZF)微缺失情况及特点,探讨其在诊治男性不育症中的临床价值。方法 采用多重聚合酶链式反应(mPCR)技术扩增1 163例精子数目、活力异常的男性不育患者AZF基因的15个序列标签位点(STS),并使用琼脂糖凝胶电泳对目的片段进行鉴别分析。结果 1 163例不育患者中130例(11.18%)患者AZF基因位点发生微缺失。在AZF微缺失组合类型中,AZFc+AZFd位点微缺失最多,共97例(8.34%,97/1 163)；其次为AZFb+AZFc+AZFd的组合缺失,共21例(1.81%,21/1 163)；AZFa+AZFb+AZFc+AZFd四个AZF区域均发生缺失的患者,以及仅仅在AZFa区域发生微缺失的患者分别为6例,各占总不育患者的0.52%(6/1 163)。结论 Y染色体AZF区域微缺失是部分男性不育症的重要遗传致病因素,有必要对精液质量异常的男性不育患者进行AZF基因微缺失检测,将有助于明确病因并指导后续治疗。 |
| 英文摘要: |
| Objective To analyze the frequency and characteristics of azoospermia factor(AZF)microdeletions on Ychromosome from 1 163 infertile men in Anhui province and to discuss the diagnostic value of AZF microdeletions detection in male infertility.Methods Multiple polymerase chain reaction(PCR)techniques combined with agarose gel electrophoresis were applied to analyze 15 sequence tagged sites(STS)of the azoospermia factor(AZF)microdeletions among 1 163 male infertility patients with azoospermia or oligozoosperm in Anhui province.Results Among all the 1 163 infertile men,130(11.18%)cases were detected to have AZF microdeletions.As for combined types of AZF microdeletions,there were 97 cases(8.34%,97/1163)of AZFc+AZFd deletions,21 cases(1.81%,21/1 163)of AZFb+AZFc+AZFd deletions,6 cases(0.52%,6/1 163)of AZFa+AZFb+AZFc+AZFd deletions,and 6 cases(0.52%,6/1163)of AZFa deletions.Conclusions AZF microdeletion is one of the most important causes for sperm abnormality and subsequent male infertility.AZF microdeletion screening for infertile men with sperm abnormality is necessary to facilitate accurate diagnosis and optimal therapy. |
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