慢性阻塞性肺疾病发病与线粒体DNA单倍型相关

摘要

目的 探讨外周血白细胞线粒体DNA(mtDNA)单倍型与慢性阻塞性肺疾病(COPD)遗传易感性之间的关系.方法 COPD患者60名,对照组45名.PCR扩增mtDNA髙变区和10171~10659区DNA片段并测序.将获得的核苷酸序列信息与修订后的mtDNA剑桥序列比对,根据汉族人群mtDNA单倍型分类树把所有样本划分到相应的单倍群.结果 COPD组和对照组都分为A、F和M7等9种单倍型;其中A单倍型在COPD组有较高比例(P<0.05),F单倍型在对照组有较高比例(P<0.05).结论 A单倍型可以增加COPD的发病风险,F单倍型可以降低COPD的发病风险.COPD的发生发展可能与mtDNA单倍型突变有关.%Objective To identify the relation between peripheral leukocytes mitochondria DNA(mtDNA) haplo-group and chromic obstructive pulmonary disease(COPD).Methods Sixty COPD patients and 45 healthy con-trols were recruited from Taihe Hospital .mtDNA hypervariable ( HVS ) region and 10171-10659 region were cloned and sequenced.Mutation sites were analyzed via aligning the target gene sequence with the rCRS ( revised Cambridge Reference Sequence) of mtDNA.Samples were divided into possible haplogroup according to mtDNA haplogroup classification tree of Han population.Results Both COPD group and control group were divided into 9 kinds of haplogroup, such as A, F and M7.A haplogroup has a higher proportion in COPD group than control group ( P<0.05) , while F haplogroup has a higher proportion in the control group than COPD group ( P<0.05) . Conclusions F haplogroup may reduce the COPD risk, while A haplogroup may be risk factor for COPD.The occurrence and development of COPD is potentially related to mtDNA haplogroup mutation .