汉族人线粒体DNA单倍型与散发型帕金森病关系的研究

目的：研究汉族人线粒体DNA（mtDNA）单倍型与散发性帕金森病（PD）的关系。方法：用酚／氯仿法从65例PD患者和50名健康者（对照组）的外周静脉血中提取基因组DNA，通过斑点杂交方法对PD患者和对照组的10个单核苷酸多态性（SNP）位点（G1719A，G4580A，C7028T，G8251A，G9055A，A10398G，A12308G，G13366A，C13708T，G16391A）和单倍型进行检测。结果：PD组G1719A突变5例、G9055A突变2例、C13708T突变4例，对照组G1719A突变1例，2组的突变率无显著性差异（P〉0.05）。PD组H单倍型54例（83.1％），其他11例（16.9％）；对照组H单倍型49例（98.0％），其他1例（2.0％）。结论：10398G不是汉族人散发性PD发病的易感因子，也没有保护作用；不宜用H、I、J、K、T、U、V、w和x等9个mtDNA单倍型来评估汉族人散发性PD发病风险。

Relationship Between Mitochomdrial DNA Hapiogroup and Sporadic Parkinson's Disease in Han Population

Objective： To explore the relationship between mitochomdrial DNA haplogroup and sporadic Parkinson＇s diease （PD） in Han ethnic population. Methods： Extraction of total genomic DNA from whole blood cells of 65 sporadic PD patients and 50 healthy controls was performed by hydroxybenzene-chloroform method respectively. The 10 single nucleotide polymorphsims（SNP）（G1719A, G4580A, C7028T, G8251A, G9055A, A10398G, A12308G, G13366A, C13708T, G16391A） and haplogroup were tested by dot-blot hybridization. Results： 5 mutations of G1719A, 2 of G9055A and 4 of C13708T were found in the PD patients; 1 mutation of G1719A in the control. No mutation showed significantly different frequencies between the patients and controls. 54（83.1%） H haplogroups and 11（16.9%） others were tested in the patients, 49（98.0%） haplogroups belonged to H and 1（2.0%） haplogroup to others in the controls. Conclusion： Our study suggests that 10398G is not susceptible factor and do not have a protective effect. It is inadvisable that the risk for sporadic PD in Han ethnic population are evaluated by using haplogroup H, I, J, K, T, U, V, Wand X.