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异染色质多态性与复发性流产有关吗?

Are heterochromatin polymorphisms associated with recurrent miscarriage?

作者信息

Caglayan Ahmet Okay, Ozyazgan Isilay, Demiryilmaz Fatma, Ozgun Mahmut Tuncay

机构信息

Medical Genetics, Kayseri Education and Research Hospital, Erciyes University, Kayseri, Turkey.

出版信息

J Obstet Gynaecol Res. 2010 Aug;36(4):774-6. doi: 10.1111/j.1447-0756.2010.01207.x.

Abstract

AIM

Recurrent miscarriage is a multifactorial problem associated with genetic abnormalities reflected by inherited disorders. The aim of the present study was to investigate the contribution of chromosomal abnormalities and the frequency of a particular type of aberration in couples of Turkish origin with recurrent miscarriages compared with patients without miscarriages.

METHODS

A total of 336 patients with recurrent miscarriages and 427 patients without miscarriages were analyzed.

RESULTS

In the recurrent miscarriage group, a structural chromosomal abnormality was found in four patients (1%). Twelve patients had mosaic karyotype (3%) and the total rate of chromosomal abnormalities was 4% in this group. The karyotypes were composed of polymorphisms in 8% of patients with recurrent miscarriages compared with 4% in the control group (P < 0.05).

CONCLUSION

The overall high incidence of chromosome polymorphisms in patients with recurrent miscarriages compared to the normal population needs to be confirmed with additional investigations including larger populations in order to delineate the role of 'harmless' chromosomal aberrations in the etiology of recurrent spontaneous abortions.

摘要

目的

复发性流产是一个与遗传性疾病所反映的基因异常相关的多因素问题。本研究的目的是调查染色体异常的影响,以及与无流产患者相比,土耳其裔复发性流产夫妇中特定类型畸变的发生率。

方法

共分析了336例复发性流产患者和427例无流产患者。

结果

在复发性流产组中,4例患者(1%)发现有结构染色体异常。12例患者有嵌合核型(3%),该组染色体异常的总发生率为4%。复发性流产患者中8%的核型由多态性组成,而对照组为4%(P<0.05)。

结论

与正常人群相比,复发性流产患者染色体多态性的总体高发生率需要通过包括更大样本量人群的进一步研究来证实,以便明确“无害”染色体畸变在复发性自然流产病因中的作用。

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