中国人群中几种常见的线粒体DNA单倍型帕金森病致病相对危险度研究

Study on relative risk of Parkinson' s disease in Chinese classified common mtDNA haplogroups

目的研究几种东亚人群中常见的线粒体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79例PD患者和63名健康对照者的外周静脉血中提取基因组DNA,采用限制片段长度多态性(PCR-RFLP)方法对其进行4个东亚人群常见的mtDNA单倍型相关单核苷酸多态性(SNP)位点的检测。结果 PD组检出单倍型A 2例,单倍型C 4例,单倍型D 5例,单倍型G 2例;对照组检出单倍型A 3例,单倍型C 9例,单倍型D 8例,单倍型G 1例。在这4种单倍型中,单倍型G的PD致病相对危险度最高,而单倍型C最低,但差异无统计学意义(P>0.05)。结论在我们研究的4种单倍型中,没有发现PD致病相对优势单倍型,虽然单倍型C致病相对危险度最低,但还需要进一步加大样本量作年龄和性别分层研究来证实它的作用。

Objective To explore the relationship between several common haplogroups and sporadic Parkinson＇ s disease （ PD ） in Chinese. Methods Extraction of total genomic DNA from venous blood cells of 79 PD patients and 63 healthy controls was performed by hydroxybenzene-chloroform method respectively, the 4 single nucleotide polymorphisms （SNP） which is related to the several common haplogroups were genctyped by PCR-RFLP method. Resuits 2 individuals of haplogroup A, 4 individuals of haplogroup C, 5 individuals of haplogroup D, 2 individuals of haplogroup G were found in the PD patients, and 3 individuals of haplogroup A, 9 individuals of haplogroup C, 8 individuals of haplogroup D, only 1 individuals of haplogroup G were found in the healthy controls. So individuals classified as haplogroup G have the highest relative risk of PD, whereas individuals classified as haplogroup C have the lowest relative risk of PD, but there was no significant difference （P 〉 0. 05 ）. Conclusion There was no advantage haplogroup among the fours in our study, while individuals classified as haplogroup C have the lowest relative risk of PD, additional large sample stratified studies of sex and age will be need to confirm the protective effect of the haplogroup.