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首页> 外文期刊>Journal of Human Reproductive Sciences >Microdeletion of Y chromosome as a cause of recurrent pregnancy loss
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Microdeletion of Y chromosome as a cause of recurrent pregnancy loss

机译:Y染色体的微缺失是复发性流产的原因

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CONTEXT:In majority of couples experiencing recurrent pregnancy loss (RPL), etiology is still unknown. Two genetic factors have been suggested to underlie miscarriage in a subset of patients, namely skewed X chromosome inactivation in females and Y chromosome microdeletions in their partners. In males, microdeletions of the Y chromosome are known to cause spermatogenetic failure and male infertility.AIMS:The aim of the study was to find out the role of Y chromosome microdeletion in male partners of couples experiencing RPL.SETTINGS AND DESIGN:University hospital and genetic laboratory. Prospective case–control study.SUBJECTS AND METHODS:59 couples with a history of RPL and 20 fertile controls (FC) with no miscarriage were included in the study. The study subjects were divided into male partners of RPL couples with abnormal semen parameters (AS) (n = 8), and couples with normal semen parameters (NS) (n = 51). Fertile controls with normal semen parameters were (FC) (n = 20). Y chromosome microdeletion was performed on 40 male partners of RPL and 20 FC.STATISTICAL ANALYSIS USED:Chi-square test. P <0.05 were considered statistically significant.RESULTS:13 of the 40 RPL cases showed deletion in three azoospermia factor loci on the long arm of Y chromosome. The P value was significant with Y chromosome microdeletion in RPL cases as compared to 20 FC where no Y chromosome microdeletion was present.CONCLUSIONS:Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage and can be offered to couples with the undiagnosed cause of miscarriage.
机译:背景:在大多数经历反复妊娠流产(RPL)的夫妻中,病因仍然未知。已经提出了两个遗传因素是一部分患者流产的基础,即女性偏斜的X染色体失活和其伴侣的Y染色体微缺失。在男性中,已知Y染色体的微缺失会导致精子发生失败和男性不育。目的:本研究的目的是找出Y染色体微缺失在经历RPL的夫妇的男性伴侣中的作用。设置与设计:大学医院和基因实验室。受试者与方法:前瞻性研究对象和方法:59例具有RPL病史的夫妇和20例无流产的可育对照(FC)。研究对象分为精液参数异常(AS)(n = 8)和正常精液参数(NS)(51)的RPL男性伴侣。精液参数正常的可育对照为(FC)(n = 20)。对40个RPL和20个FC的雄性伴侣进行了Y染色体的微缺失。统计分析采用卡方检验。结果:40例RPL病例中有13例表现出Y染色体长臂上的三个无精子因子基因座缺失。与不存在Y染色体微缺失的20 FC相比,RPL病例中Y染色体微缺失的P值显着。结论:Y染色体微缺失可能是复发性流产的重要隐藏原因,可以提供给未确诊原因的夫妇流产。

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