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[ABCC11基因单核苷酸多态性与中国汉族人群腋臭发病率的相关性]

[Correlation between ABCC11 gene single nucleotide polymorphism and the incidence of axillary osmidrosis in Chinese Han population].

作者信息

Sun Yang, Long Jianhong, Wang Yongjie

机构信息

Department of Plastics and Cosmetic Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.

出版信息

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2013 Nov;38(11):1141-5. doi: 10.3969/j.issn.1672-7347.2013.11.010.

DOI:10.3969/j.issn.1672-7347.2013.11.010
PMID:24316925
Abstract

OBJECTIVE

To explore the relationship between ABCC11 gene single nucleotide polymorphism (SNP) and the incidence of axillary osmidrosis in Chinese Han population.

METHODS

The genotype of ABCC11 gene SNP at rs17822931 in 40 patients with axillary osmidrosis and 5 normal Han people was detected and analyzed by high resolution melt and gene sequencing.

RESULTS

The detection of the genotype of ABCC11 gene SNP at rs17822931 showed that: 37 of the 40 patients were GA genotype and the other 3 were GG genotype, while the 5 normal subjects were AA genotype.

CONCLUSION

SNP in ABCC11 is the genetic cause of axillary osmidrosis. GG or GA leads to axillary osmidrosis, while AA allele presents the absence of axillary osmidrosis.

摘要

目的

探讨ABCC11基因单核苷酸多态性(SNP)与中国汉族人群腋臭发病率之间的关系。

方法

采用高分辨率熔解曲线分析和基因测序技术,对40例腋臭患者和5名正常汉族人的ABCC11基因rs17822931位点的SNP基因型进行检测和分析。

结果

ABCC11基因rs17822931位点SNP基因型检测结果显示:40例患者中37例为GA基因型,3例为GG基因型,5名正常对照者均为AA基因型。

结论

ABCC11基因SNP是腋臭的遗传病因。GG或GA基因型可导致腋臭,而AA基因型则表现为无腋臭。

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引用本文的文献

1
A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population.ABCC11 基因的错义变异与中国人腋臭易感性及临床表型相关。
Sci Rep. 2017 May 9;7:46335. doi: 10.1038/srep46335.
2
Diagnosis of Human Axillary Osmidrosis by Genotyping of the Human ABCC11 Gene: Clinical Practice and Basic Scientific Evidence.通过人类ABCC11基因分型诊断人类腋窝臭汗症:临床实践与基础科学证据
Biomed Res Int. 2016;2016:7670483. doi: 10.1155/2016/7670483. Epub 2016 Feb 23.