Analysis of perforin and granzyme B gene single nucleotide polymorphisms in Han population of Chongqing.

WEN Yi-ni; et al

doi:10.13406/j.cnki.cyxb.2010.08.003

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Analysis of perforin and granzyme B gene single nucleotide polymorphisms in Han population of Chongqing.

更新时间：2024-01-17

- Analysis of perforin and granzyme B gene single nucleotide polymorphisms in Han population of Chongqing.
- Journal of Chongqing Medical University Vol. 35, Issue 8, Pages: 1183-1186(2010)
- 作者机构：
  
  重庆医科大学附属儿童医院P2实验室
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.2010.08.003
  CLC： R394
- Published：2010，
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[1]文旖旎,安云飞,赵晓东.重庆地区汉族人群穿孔素和颗粒酶B基因多态性分析[J].重庆医科大学学报,2010,35(08):1183-1186.

WEN Yi-ni, et al. Analysis of perforin and granzyme B gene single nucleotide polymorphisms in Han population of Chongqing.. [J]. Journal of Chongqing Medical University 35(8):1183-1186(2010)
[1]文旖旎,安云飞,赵晓东.重庆地区汉族人群穿孔素和颗粒酶B基因多态性分析[J].重庆医科大学学报,2010,35(08):1183-1186. DOI： 10.13406/j.cnki.cyxb.2010.08.003.

WEN Yi-ni, et al. Analysis of perforin and granzyme B gene single nucleotide polymorphisms in Han population of Chongqing.. [J]. Journal of Chongqing Medical University 35(8):1183-1186(2010) DOI： 10.13406/j.cnki.cyxb.2010.08.003.

摘要

目的:研究重庆地区汉族人群穿孔素（Perforin

PRF1）和颗粒酶B（Granzyme B

GZMB）基因多态性分布特征及连锁不平衡

为研究PRF1和GZMB基因多态性与疾病相关性提供前期实验依据。方法:采用直接测序法对100名重庆地区健康儿童的PRF1和GZMB基因单核苷酸多态性（SNPs）进行分析。结果:①在重庆地区汉族儿童PRF1基因外显子3发现多态性3877C>T和3955C>T。在GZMB外显子2、外显子3、外显子5分别发现多态性1273G>A

1804A>G及1815C>G

3151T>C及3186A>G

其中1815C>G和3186A>G是本研究新发现的多态性位点。②不同种族和地区PRF1及GZMB基因SNPs分布不同。PRF1基因两个多态性位点在重庆地区人群中呈现强烈的连锁不平衡（D’=0.996）。GZMB基因的5个多态性位点两两连锁不平衡。结论:在重庆地区汉族人群PRF1和GZMB基因中共发现7个多态性位点

其中2个为首次发现。PRF1和GZMB基因多态性在重庆地区汉族人群中均存在显著连锁不平衡。

Abstract

Objective:To investigate the distribution characters and linkage disequilibrium of PRF1 and GZMB gene polymorphisms in Han population of Chongqing.Methods:The single nucleotide polymorphisms(SNPs)in PRF1 and GZMB gene of 100 normal subjects in Han population of Chongqing were detected by DNA sequencing analysis.Results:Two SNPs in exon 3 of PRF1 as well as one SNP in exon 2

two SNPs in exon 3

two SNPs in exon 5 of GZMB were identified

but no SNPs were detected in exon 2 of PRF1.Among them

two novel SNPs were identified in GZMB gene.The frequency distribution of these SNPs was different among different races and territory.In addition

linkage disequilibrium in the SNPs of 3877C>T and 3955C>T of PRF1 gene was found.There was a strong linkage disequilibrium among the SNPs of GZMB.Conclusion:7 SNPs were detected in PRF1 and GZMB genes all together

two of which were first identified. There is apparent linkage disequilibrium among SNPs of PRF1and GZMB gene in Han population of Chongqing.

关键词

穿孔素颗粒酶B单核苷酸多态性连锁不平衡

Keywords

PerforinGranzyme Bsingle nucleotide polymorphismLinkage disequilibrium

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