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Y染色体长臂上的微缺失及其与男性因素不育的关联。

Microdeletions on the long arm of the Y chromosome and their association with male-factor infertility.

作者信息

Briton-Jones C, Haines C J

机构信息

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin.

出版信息

Hong Kong Med J. 2000 Jun;6(2):184-9.

PMID:10895142
Abstract

Significant advances in treatment have enabled previously infertile males to achieve fatherhood, when only a few years ago they would have had no chance of biological paternity. In contrast to the overall success of assisted reproduction, the aetiology of male-factor infertility is poorly understood. Recent studies have shown, however, that a significant proportion of men with severe infertility have microdeletions of the Y chromosome. Furthermore, reports have shown that male infants conceived through assisted reproductive techniques have inherited the same Y-chromosome microdeletion as their fathers. It has thus become important to screen men who are at risk of Y-chromosome microdeletions, as this will determine if counselling is needed prior to starting infertility treatment. This review examines the significance and limitations of the current understanding of Y-chromosome microdeletions in male infertility.

摘要

治疗方面的重大进展使以前不育的男性能够成为父亲,而就在几年前,他们还没有生物学意义上的亲子关系的机会。与辅助生殖的总体成功形成对比的是,人们对男性因素不育的病因了解甚少。然而,最近的研究表明,相当一部分严重不育的男性存在Y染色体微缺失。此外,有报告显示,通过辅助生殖技术受孕的男婴继承了与他们父亲相同的Y染色体微缺失。因此,对有Y染色体微缺失风险的男性进行筛查变得很重要,因为这将决定在开始不育治疗之前是否需要咨询。这篇综述探讨了目前对男性不育中Y染色体微缺失的理解的意义和局限性。

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Microdeletions on the long arm of the Y chromosome and their association with male-factor infertility.Y染色体长臂上的微缺失及其与男性因素不育的关联。
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Genetic screening for AZF Y chromosome microdeletions in Jordanian azoospermic infertile men.约旦无精子症不育男性中Y染色体微缺失的AZF基因筛查
Int J Mol Epidemiol Genet. 2014 Feb 17;5(1):47-50. eCollection 2014.
2
Y choromosomal microdeletion screening in the workup of male infertility and its current status in India.男性不育症检查中的Y染色体微缺失筛查及其在印度的现状
Int J Fertil Steril. 2014 Jan;7(4):253-66. Epub 2013 Dec 22.
3
High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia.
中文译文:中东地区特发性非梗阻性无精子症患者遗传异常的高发率。
J Assist Reprod Genet. 2013 Jun;30(6):799-805. doi: 10.1007/s10815-013-9995-z. Epub 2013 Apr 25.
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Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey.土耳其东南部少精子症和无精子症不育男性的细胞遗传学和Y染色体微缺失筛查研究
J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):559-65. doi: 10.1007/s10815-008-9272-8. Epub 2008 Oct 25.