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[摩洛哥大头精子畸形精子症患者中极光激酶C基因(AURKC)纯合突变c.144delC高患病率的确认]

[Confirmation of the high prevalence in Morocco of the homozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa].

作者信息

El Kerch F, Lamzouri A, Laarabi F Z, Zahi M, Ben Amar B, Sefiani A

机构信息

Département de génétique médicale, Institut national d'hygiène, 27, avenue Ibn Batouta, BP 769, Rabat, Maroc.

出版信息

J Gynecol Obstet Biol Reprod (Paris). 2011 Jun;40(4):329-33. doi: 10.1016/j.jgyn.2010.09.003. Epub 2011 Feb 24.

Abstract

OBJECTIVES

To confirm the recurrent character of the mutation c.144delC in the aurora kinase C (AURKC) gene in Morocco and determine the indication and the interest of the research of this anomaly.

PATIENTS AND METHODS

We looked for the mutation c.144delC in the AURKC gene in 18 infertile Moroccan patients. They were seen in medical genetic consultation within the framework of the preparatory assessment for medically-assisted procreation. Genomic DNA was extracted from 5 ml of EDTA-blood. The gene AURKC exon 3 was amplified by PCR then sequenced by using the Big-Dye Terminator V3.1 kit and an ABI Prism 310 Genetic Analyzer (Applied Biosystems).

RESULTS

All the patients who had a typical phenotype with high rates of large-headed spermatozoa were homozygous for the mutation c.144delC in the AURKC gene.

CONCLUSION

We confirm in this study the research interest of the recurrent mutation c.144delC in the gene AURKC in male infertility with high rates of large-headed spermatozoa. This molecular analysis avoids to many infertile couples unnecessary expenses and succession failures in case of use of medically-assisted procreation (MAP).

摘要

目的

在摩洛哥确认极光激酶C(AURKC)基因中c.144delC突变的复发性,并确定该异常研究的适应症和意义。

患者与方法

我们在18名摩洛哥不育患者中寻找AURKC基因中的c.144delC突变。他们是在医学辅助生殖准备评估框架内接受医学遗传咨询时被发现的。从5毫升乙二胺四乙酸(EDTA)抗凝血中提取基因组DNA。通过聚合酶链反应(PCR)扩增AURKC基因外显子3,然后使用Big-Dye Terminator V3.1试剂盒和ABI Prism 310遗传分析仪(应用生物系统公司)进行测序。

结果

所有具有大头精子高比例典型表型的患者在AURKC基因中均为c.144delC突变的纯合子。

结论

我们在本研究中证实了AURKC基因中c.144delC复发性突变在大头精子比例高的男性不育症研究中的意义。这种分子分析避免了许多不育夫妇在使用医学辅助生殖(MAP)时产生不必要的费用和连续失败。

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