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表面活性蛋白B 1580多态性与中国汉族人群慢性阻塞性肺疾病易感性相关。

Surfactant protein B 1580 polymorphism is associated with susceptibility to chronic obstructive pulmonary disease in Chinese Han population.

作者信息

Hu Ruicheng, Xu Yongjian, Zhang Zhenxiang

机构信息

Department of Respiratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

出版信息

J Huazhong Univ Sci Technolog Med Sci. 2004;24(3):216-8, 238. doi: 10.1007/BF02831993.

DOI:10.1007/BF02831993
PMID:15315329
Abstract

Whether surfactant protein B (SP-B)-18A/C and 1580C/T polymorphism were associated with susceptibility to chronic obstructive pulmonary disease (COPD) in Chinese Han population was investigated. After genomic DNA was isolated from blood of COPD smokers and control smokers, the genotypes of SP-B-18A/C and SP-B1580C/T polymorphism loci were determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) respectively. The results showed that there was significant difference in genotypes distribution frequency of SP-B1580C/T polymorphism locus between COPD smokers and control smokers. C-->T mutation rate (including TT homozygote and CT heterozygote) in COPD smokers was higher than in control smokers (57.9% vs 41.7%, chi2 = 4.93, P<0.05), whereas there was no significant difference in genotypes distribution frequency of SP-B1580-18A/C locus between COPD smokers and control smokers. The allele frequency (29.1%) of SP-B1580-18A/C locus is lower than T allele (70.9%) in Chinese Han Population, and the distribution was different from that in Mexican, in which, the A and T allele frequencies were 85% and 15% respectively. It was concluded that SP-B1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population; The polymorphism of SP-B-18A/C locus maybe varied with race.

摘要

研究了表面活性蛋白B(SP-B)-18A/C和1580C/T基因多态性是否与中国汉族人群慢性阻塞性肺疾病(COPD)易感性相关。从COPD吸烟者和对照吸烟者的血液中分离基因组DNA后,分别采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)测定SP-B-18A/C和SP-B1580C/T基因多态性位点的基因型。结果显示,COPD吸烟者与对照吸烟者之间,SP-B1580C/T基因多态性位点的基因型分布频率存在显著差异。COPD吸烟者的C→T突变率(包括TT纯合子和CT杂合子)高于对照吸烟者(57.9%对41.7%,χ2 = 4.93,P<0.05),而COPD吸烟者与对照吸烟者之间,SP-B1580-18A/C位点的基因型分布频率无显著差异。在中国汉族人群中,SP-B1580-18A/C位点的等位基因频率(29.1%)低于T等位基因(70.9%),其分布与墨西哥人群不同,墨西哥人群中A和T等位基因频率分别为85%和15%。得出结论:SP-B1580 T等位基因可能与中国汉族人群COPD易感性增加有关;SP-B-18A/C位点的多态性可能因种族而异。

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