中国南方汉族人β-defensin-1基因多态性与慢性阻塞性肺疾病易感性的关系  

Relevance of β-defensin-1 gene polymorphism and chronic obstructive pulmonary disease susceptibility in Han population of South China

作　　者：周敏[1] 黄绍光[1] 万欢英[1] 李彪[2] 程齐俭[1] 戎霞君[1] 邓伟吾[1] 

机构地区：[1]上海第二医科大学附属瑞金医院肺科,200025 [2]上海第二医科大学附属瑞金医院同位素科,200025

出　　处：《上海医学》2004年第12期888-890,共3页Shanghai Medical Journal

基　　金：国家十五科技攻关资助项目 (2 0 0 1BA70 3B0 3 )

摘　　要：目的　探讨中国南方汉族人 β- defensin- 1基因多态性与慢性阻塞性肺疾病 (COPD)易感性的关系。方法　采用限制性片段长度多态性 (RFLP)技术检测 β defensin -1外显子 2基因型在 12 0例COPD吸烟患者和10 8例非COPD吸烟者中的频率。结果　COPD组同源野生型 (G/G)、杂合型 (G/A)和同源突变型 (A/A)频率分别为 82 .5 0 %、10 .83%和 6 .6 7% ,非COPD组的频率分别为 95 .37%、3.70 %和 0 .93% ,两组基因频率分布的差异有显著性 (P <0 .0 1)。两组等位基因的分布差异也有显著性 (等位基因G频率分别为 87.92 %∶97.2 2 % ;等位基因A频率分别为 12 .0 8%∶2 .78% ;P <0 .0 1) ;G→A的突变率随COPD病情的严重度增加而上升。结论　β defensin 1基因外显子 2的 16 5 4位多态性与中国南方汉族人群COPD易感性可能有关 ,而且可能还影响COPD的进展。Objective To investigate the correlation between β-defensin-1 gene polymorphism and chronic obstructive pulmonary disease (COPD) susceptibility in Southern Chinese Han population. Methods Examine the frequency of the exon 2 of β-defensin-1 in 120 COPD patients and 108 smoking control subjects without COPD by restriction fragment length polymorphism. Results The frequencies of polymorphic genotypes in exon 2 of β-defensin-1 in COPD group were G/G 82.50%, G/A 10.83% and A/A 6.67%,the frequencies of polymorphic genotypes in the control group were 95.37 %, 3.70% and 0.93%,The difference between the two groups was significant(P<0.01). The difference in allele frequencies was also significant between the two groups (G allele frequency: 87.92% vs 97.22%, A allele frequency: 12.08% vs 2.78%, P<0.01). The nucleotide substitution (G→A) increased along with the severity of the COPD.Conclusions The genetic polymorphism in exon 2 of β-defensin-1 is probably associated with the susceptibility to COPD in Han population of South China and it may affect the development of COPD

关 键 词：COPD 易感性 基因多态性 慢性阻塞性肺疾病 汉族人群 外显子2 等位基因 中国南方 RFLP 限制性片段长度多态性 

分 类 号：R563.9[医药卫生—呼吸系统]