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反复性流产夫妇的细胞遗传学因素探讨 被引量:9

Research of cytogenetics factors on recurrent spontaneous abortion couples
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摘要 目的分析反复性流产(RSA)夫妇的染色体检测结果,探讨RSA与染色体异常的关系。方法选择2012年1月1日至2014年12月31日于广西壮族自治区妇产医院就诊的1 180对(2 360例)RSA夫妇为研究对象。采用G显带技术对其进行染色体核型分析。本研究遵循的程序符合广西壮族自治区妇产医院人体试验委员会制定的伦理学标准,得到该委员会批准,并征得受试对象及监护人知情同意,与受试对象本人签署临床研究知情同意书。结果 2 360例检测对象中,检测出染色体异常患者为189例(8.0%),其中,女方染色体异常者为107例,男方染色体异常为82例;RSA=2次患者为135例,RSA=3次为45例,RSA≥4次为9例。189例染色体异常患者中,染色体结构异常为38例(20.1%,包括26例染色体平衡易位、7例罗伯逊易位、4例染色体倒位和1例染色体缺失);染色体多态性为151例[79.9%,包括103例次缢痕增加、21例inv(9)染色体倒位、17例染色体随体柄增长、5例染色体随体增加和5例染色体着丝粒异染色质增加]。结论夫妇双方或任意一方染色体异常均是导致RSA的重要细胞遗传学因素。染色体多态性在RSA发病因素中应得到重视。 Objective To analyze the results of chromosome test in recurrent spontaneous abortion ( RSA ) couples, and investigate the relationship between RSA and chromosome abnormality. Methods From 1st January 2012 to 31st December 2014, a total of 1 180 RSA couples (2 360 cases) were included in the study. Their chromosome karyotype were analyzed by G banding technology. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Guangxi Obstetrics and Gynecology Hospital. Informed consent was obtained from each participates. Results 189 cases (8.0%) were found abnormal chromosome,there were 107 female cases and 82 male cases among them. In those 189 patients with chromosomal abnormalities, 38 cases (20.1%) were founded abnormal chromosome structurewere,including 26 cases of balanced translocation chromosomes, 7 cases robertsonian translocation, 4 cases chromosome inversion and 1 case chromosome deletion. Meanwhile, 151 cases(79.9%) were founded chromosome polymorphism. It contained chromosomal inversion, 17 cases with chromosome and 5 cases of chromosome abnormality is one of important genetic attention in RSA. 103 cases of secondary constriction increase, 21 cases of inv(9) the body of trabant chromosome increase, 5 cases of trabant centromeric heterochromatin increase. Conclusions Chromosome factors lead to RSA. Chromosome polymorphism should be more
出处 《中华妇幼临床医学杂志(电子版)》 CAS 2015年第5期609-612,共4页 Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)
基金 "十二五"国家科技支撑计划项目两项(2012BAI09B04)~~
关键词 复发性流产 遗传因素 染色体多态性 Recurrent spontaneous abortion Genetic factor Chromosomal polymorphism
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参考文献16

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