人类子宫内膜癌与mtDNA基因单倍群的相关性研究

The correlation of mtDNA haplogroups and endometrial carcinoma

目的探讨mtDNA单倍群与子宫内膜癌的相关性。方法选取2010年1月～2012年10月间于我院就诊的子宫内膜癌患者32例作为观察组,另外选取同期在我院进行健康体检与其匹配的本地女性居民32名作为对照组。采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法确定mtDNA单倍群,通过聚合酶链式反应-高温连接酶检测反应(PCR-LDR)的方法检测基因型与子宫内膜癌的相关性。结果观察组中有16例39个基因位点发生突变,其中mtDNA基因多态性改变有5例,对照组则有4例13个基因位点发生突变,mtDNA基因多态性改变有1例。两组比较差异有统计学意义(P<0.05)。并对位于mtDNA中D-loop区可能具有功能性的基因多态位点73 G/A、16126 C/T、16189 T/C、16391 G/A和14783 A/G等进行检测。结论为确定子宫内膜癌高危人群开辟新的途径,为子宫内膜癌的预防和诊断提供新的科学依据。

Objective To investigate the correlation of mtDNA haplogroups and endometrial carcinoma.Methods The clinical data of 32 patients with endometrial carcinoma in our hospital from January 2010 to October 2012 were col lected as observation group,then selected 32 local female residents with health examination as control group in our hospital at the same period.mtDNA haplogroups were confirmed by PCR-RFLP method,the correlation of gene type and endometrial carcinoma were measured by PCR-LDR method.Results There were 16 cases in 39 gene locus mutated in observation group,and the genetic polymorphisms changed in 5 cases.There were 4 cases in 13 gene locus mutated in control group,and the genetic polymorphisms changed in 1 case.There was signifant difference in both groups（P〈0.05）.73 G/A,16126 C/T,16189 T/C,16391 G/A and 14783 A/G locus with possible function in D-loop re gion（mtDNA） were measured.Conclusion It may open up a new way to confirm high-risk population with endometrial carcinoma,and provide some new thoughts for diagnosis and prevention of endometrial carcinoma.