基础医学与临床 ›› 2017, Vol. 37 ›› Issue (12): 1729-1732.

• 研究论文 • 上一篇    下一篇

慢性阻塞性肺疾病发病与线粒体DNA单倍型相关

郑翔,冯莹,陈黎,方志成   

  1. 十堰市太和医院
  • 收稿日期:2016-11-07 修回日期:2017-01-18 出版日期:2017-12-05 发布日期:2017-11-29
  • 通讯作者: 方志成 E-mail:fyhappy.hello@163.com
  • 基金资助:
    湖北省教育厅科学技术研究项目

Relevance between the occurrence of chronic obstructive pulmonary disease and mitochondria DNA haplogroups

  • Received:2016-11-07 Revised:2017-01-18 Online:2017-12-05 Published:2017-11-29

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。

关键词: 慢性阻塞性肺疾病, 遗传易感性, 线粒体DNA, 单倍型

Abstract: Objective To explore the relevance between peripheral leukocytes mtDNA haplogroups and the occurrence of COPD. Methods 60 COPD patients and 45 healthy controls were recruited from Taihe Hospital. MtDNA HVS (hypervariable) region and 10171-10659 regions 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 haplogroups according to mtDNA haplogroup classification tree of Han population. Results Both COPD group and control group were divided into 9 kinds of haplogroups, 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 might reduce the COPD risk, while A haplogroup might be risk factor for COPD. The occurrence and development of COPD might be related to mtDNA haplotype mutation.

Key words: Chronic obstructive pulmonary disease, Genetic susceptibility, Mitochondria DNA, Haplogroup

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