CAJ | 학술논문

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.
목적 탐토NOD2기인단핵감산다태성(SNP)위점여중국이족인군마풍병적관계.방법 단감기연신법(SNaP shot)검측300례이족마풍병환자화300례이족건강대조NOD2기인적4개SNP위점:rs9302752、rs7194886、rs8057341、rs3135499적기인형.결과 4개위점적기인형분포균부합Hardy-Weinberg 평형(P＞0.05),rs3135499위점적기인형빈솔화등위기인빈솔재마풍병조화대조조간적차이유통계학의의(균P＜ 0.01).rs9302752、rs7194886、rs8057341위점적기인형빈솔화등위기인빈솔재마풍병조화대조조간적차이무통계학의의(균P＞ 0.05).결론 NOD2기인단핵감산다태성위점rs3135499여중국이족인군마풍병발병상관.
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.