线粒体单倍群M中mtDNA 5351G和6680C基因型与高原肺水肿易感性的关联

Associations Between mt5351G and mt6680C Genotypes in mtDNA Haplogroup M and Susceptibility to High Altitude Pulmonary Edema among the Hans

目的研究在汉族人群中,线粒体DNA(mtDNA)的单倍群M中mt5351G和mt6680C基因型与高原肺水肿(HAPE)易感的相关性。方法收集汉族HAPE患者标本206例,以及与其匹配的汉族健康对照标本144例。采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)的方法确定mtDNA的单倍群M和N,通过聚合酶链式反应-高温连接酶检测反应(PCR-LDR)的方法研究在mtDNA单倍群M中mt5351G、mt6680C基因型与HAPE易感的相关性。结果 mtDNA单倍群M和N在HAPE病例组的频率分别为49.0%和51.0%,在对照组中的频率分别为47.2%和52.8%,两组mtDNA单倍群M和N的频率无显著差异(P>0.05)。在mtDNA单倍群M中,mt5351G和mt6680C基因型在HAPE病例组频率显著高于其在对照组中的频率(均为12.0%比1.5%,P=0.016)。结论在单倍群M中mt5351G和mt 6680C基因型是汉族人群HAPE发病的危险因素,是汉族人群HAPE易感的遗传标记之一。

Objective To analyze the correlations between the mt5351G and mt6680C genotypes in mitochondrial DNA（mtDNA） haplogroup M and susceptibility to high altitude pulmonary edema（HAPE） among the Hans.Methods Specimens from 206 Hans cases of HAPE and 144 matched Hans controls were collected.Then PCR-RFLP method was used to determine haplogroup M and N of mtDNA,and PCR-LDR was used to genotype mt5351G and mt6680C in the haplogroup M in these samples.Results The frequencies of haplogroup M and N were 49.0% and 51.0% in the HAPE patients,and 47.2% and 52.8% in the controls,respectively,with no significant difference between the HAPE patients and the controls.In the haplogroup M,the genotype of mt6680C and mt5351G frequencies in the HAPE patients were both significantly higher than the controls（both 12.0% vs.1.5%,P=0.016）.Conclusion The existence of mt5351G and mt6680C genotypes in the haplogroup M is a risk factor for HAPE among the Hans.