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[Y染色体微缺失在男性不育发病机制中的作用]

[Chromosome Y microdeletions in the pathogenesis of male infertility].

作者信息

Slezak Ryszard, Sasiadek Maria

机构信息

Zakład Genetyki Akademii Medycznej we Wrocławiu.

出版信息

Pol Merkur Lekarski. 2002 Sep;13(75):229-33.

PMID:12474577
Abstract

Since over 10 years the Y chromosome has been the subject of interest of geneticists. Until now its role has been proven in in male sex determination and development but the function of the remaining genes located on it is still within the sphere of intense research. Studies for identification of location of sequences responsible for normal course of spermatogenesis process in men have been performed since 1970s. It is believed that the factor responsible for these disorders is the gene conventionally called AZF (azoospermia factor) located probably in the euchromatic part of the long arm in Yq11.23 locus. The incidence of Y microdeletion in infertile males ranges from 1 to 55%, according to various authors. Estimated data demonstrate that about 10-15% of cases of azoospermia and about 5-10% of cases of severe oligospermia are caused by Y chromosome microdeletion.

摘要

十多年来,Y染色体一直是遗传学家关注的对象。到目前为止,它在男性性别决定和发育中的作用已得到证实,但位于其上的其余基因的功能仍处于深入研究的范畴。自20世纪70年代以来,人们一直在进行研究以确定男性精子发生过程正常进行所涉及序列的位置。据信,导致这些疾病的因素是通常称为AZF(无精子症因子)的基因,它可能位于Yq11.23位点长臂的常染色质部分。根据不同作者的数据,不育男性中Y微缺失的发生率在1%至55%之间。据估计,约10% - 15%的无精子症病例和约5% - 10%的严重少精子症病例是由Y染色体微缺失引起的。

相似文献

1
[Chromosome Y microdeletions in the pathogenesis of male infertility].[Y染色体微缺失在男性不育发病机制中的作用]
Pol Merkur Lekarski. 2002 Sep;13(75):229-33.
2
AZF microdeletions on the Y chromosome of infertile men from Turkey.来自土耳其的不育男性Y染色体上的无精子因子微缺失
Ann Genet. 2004 Jan-Mar;47(1):61-8. doi: 10.1016/j.anngen.2003.09.002.
3
[Azoospermia factor microdeletion on Y chromosome in patients with idiopathic azoospermia or severe oligozoospermia].特发性无精子症或严重少精子症患者Y染色体上的无精子症因子微缺失
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Apr;32(2):241-5.
4
Cytogenetic and molecular analysis of male infertility: Y chromosome deletion during nonobstructive azoospermia and severe oligozoospermia.男性不育的细胞遗传学和分子分析:非梗阻性无精子症和严重少精子症期间的Y染色体缺失。
Cell Biochem Biophys. 2006;44(1):171-7. doi: 10.1385/CBB:44:1:171.
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Role of the AZFd locus in spermatogenesis.AZFd基因座在精子发生中的作用。
Fertil Steril. 2005 Aug;84(2):519-22. doi: 10.1016/j.fertnstert.2005.02.024.
6
[Studies on molecular epidemiology of Y chromosome azoospermia factor microdeletions in Chinese patients with idiopathic azoospermia or severe oligozoospermia].[中国特发性无精子症或严重少精子症患者Y染色体无精子症因子微缺失的分子流行病学研究]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Oct;20(5):385-9.
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The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology.采用多分析物悬浮阵列技术检测中国不育男性Y染色体无精子症因子微缺失的患病率。
Asian J Androl. 2008 Nov;10(6):873-81. doi: 10.1111/j.1745-7262.2008.00436.x.
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[Chromosome abnormalities and Y chromosome microdeletions in patients with the azoospermia and cryptozoospermia].无精子症和隐匿性精子症患者的染色体异常及Y染色体微缺失
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):460-2. doi: 10.3760/cma.j.issn.1003-9406.2010.04.023.
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[Chromosome Y microdeletions in Czech men with severe reproductive disorders].
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PCR analysis of Yq microdeletions in infertile males, a study from South India.印度南部一项关于不育男性Yq微缺失的聚合酶链反应分析研究。
Asian J Androl. 2002 Dec;4(4):265-8.

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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.