中华皮肤科杂志 ›› 2013, Vol. 46 ›› Issue (6): 378-381.

• 论著 • 上一篇    下一篇

NOD2基因单核苷酸多态性与彝族麻风病相关性研究

熊俊浩1,毛翀1,沙晓伟2,靳征1,王皓2,3,刘杨英1,宁湧4   

  1. 1. 四川省医学科学院·四川省人民医院
    2. 四川省医学科学院·四川省人民医院皮肤病性病研究所
    3.
    4. 四川省人民医院皮肤病性病研究所
  • 收稿日期:2012-07-31 修回日期:2012-09-13 出版日期:2013-06-15 发布日期:2013-06-01
  • 通讯作者: 宁湧 E-mail:ningyongsich@163.com
  • 基金资助:
    四川省科技厅科技支撑计划资助项目

Correlation analysis between NOD2 gene single nucleotide polymorphisms and leprosy in Chinese Yi population

  • Received:2012-07-31 Revised:2012-09-13 Online:2013-06-15 Published:2013-06-01

PDF

3

赞

摘要： 【摘要】 目的 探讨NOD2基因单核苷酸多态性（SNP）位点与中国彝族人群麻风病的关系。方法 单碱基延伸法（SNaP shot）检测300例彝族麻风病患者和300例彝族健康对照NOD2基因的4个SNP位点：rs9302752、rs7194886、rs8057341、rs3135499的基因型。 结果 4个位点的基因型分布均符合Hardy-Weinberg平衡（P > 0.05），rs3135499位点的基因型频率和等位基因频率在麻风病组和对照组间的差异有统计学意义（均P < 0.01）。rs9302752、rs7194886、rs8057341位点的基因型频率和等位基因频率在麻风病组和对照组间的差异无统计学意义（均P > 0.05）。 结论 NOD2基因单核甘酸多态性位点rs3135499与中国彝族人群麻风病发病相关。 【关键词】 麻风； 彝族； 多态性，单核苷酸； 基因，NOD2

关键词: 麻风, 基因，NOD2, 多态性，单核苷酸, 彝族

Abstract: XIONG Jun-hao, MAO Chong, SHA Xiao-wei, JIN Zheng, WANG Hao, LIU Yang-ying, NING Yong. Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences and Sichuan Provincial People′s Hospital, Chengdu 610072, China Corresponding author: NING Yong, Email: maoc11@sohu.com 【Abstract】 Objective To assess the association between NOD2 gene single nucleotide polymorphisms （SNPs） and leprosy in Chinese Yi population. Methods Whole blood samples were obtained from 300 patients with leprosy and 300 healthy human controls of Yi nationality in Sichuan province. Genomic DNA was extracted, and a SNaPshot assay was performed to determine the genotypes of four single nucleotide polymorphisms （SNPs） of the NOD2 gene, including rs9302752, rs7194886, rs8057341 and rs3135499. Chi-square test was conducted to compare allele frequency, and Hardy-Weinberg equilibrium was tested. Results The genotype distribution of all the four SNPs was consistent with Hardy-Weinberg equilibrium （all P > 0.05）. Significant differences were observed between the patients with leprosy and healthy controls in both genotype distribution and allele frequency of the SNP rs3135499 （both P < 0.01）, but not in those of the other three SNPs （all P > 0.05）. Conclusion The SNP rs3135499 of the NOD2 gene may be associated with the development of leprosy in Chinese Yi population. 【Key words】 Leprosy; Yi nationality; Polymorphism, single nucleotide; Genes, NOD2

Key words: lepriasis, NOD2, Yi Chinese