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石家庄地区精子发生障碍患者发病原因分析

ISSN号：1006-5725
期刊名称：《实用医学杂志》
时间：0
分类：R698.2[医药卫生—泌尿科学;医药卫生—临床医学;医药卫生—外科学]
作者机构：[1]河北医科大学实验动物学部,河北省实验动物重点实验室,石家庄市050017, [2]河北医科大学第四医院,石家庄市050000
相关基金：河北省人口和计划生育委员会项目（编号：2010-A01）

作者：张焕铃[1], 甄秀丽[2], 郑龙[1], 张娜[2], 连伟光[1], 刘健敏[1], 尤红煜[1], 郭丽娜[2], 乜照燕[2], 吕翠婷[2], 贾新转[2], 刘树锋[1]

关键词：男性不育症, 染色体核型分析, Y染色体微缺失, Male infertility, Chromosome karyotype, Ychromosome microdeletion

中文摘要：

目的：从染色体核型、Y染色体微缺失状况及性激素水平等方面分析石家庄地区精子发生障碍患者发病原因。方法：273例精子发生障碍患者临床表现为无精子症或严重少、弱精子症。取外周血进行染色体核型分析及性激素测定;同时,提取全血DNA,应用多重PCR反应技术,采用无精子因子区16个序列标签位点对所有患者进行Y染色体微缺失分析。结果：273例精子发生障碍患者中,检测出染色体核型异常者35例,异常率为12.82%。Y染色体存在微缺失患者24例,异常率为8.79%。另外,染色体与Y染色体微缺失同时异常的9例,占总样本3.3%,并且发现Y染色体微缺失与激素水平有很大相关性。结论：对于精子发生障碍患者的诊断和人工辅助生殖治疗,染色体核型分析和Y染色体微缺失的应该作为常规检查,激素水平可作为辅助检查。

英文摘要：

Objective To analysis the causes of spermatogenesis disorder in Shijiazhuang area from the aspects of chromosome, Y chromosome microdeletion and sex hormone level. Methods 273 patients with spermatogenesis disorder manifesting as azoospermia or severe oligospermia were included in this study. Peripheral blood was obtained to analyze the karyotype and to determine the sexual hormone level. Meanwhile, DNA was extracted from blood samples, multiplex PCR reaction was applied, the azoospermia factor of 16 sequence tagged sites of Y chromosome microdeletion analysis for all patients were performed. Results In 273 patients with spermatogenesis disorder, 35 patients with chromosomal abnormality were detected （12.82%）, 24 patients with Y chromosome mierodeletion were detected （8.79%）. In addition, 9 patients were abnormal both in chromosome and in Y chromosome microdeletion （3.3%）. Great relevance was discovered between Y chromosome mierodeletion and hormone levels. Conclusions In the diagnosis of spermatogenesis disorder and assisted reproductive treatment for it, karyotype analysis of chromosome and Y chromosome mierodeletion should be used as a routine examination. Hormone levels could be used as auxiliary examination.