| 摘要: |
| ［摘要］ 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。 |
| 关键词: 线粒体DNA 单倍型 帕金森病（PD） |
| DOI：10.3969/j.issn.1674-3806.2011.05.09 |
| 分类号:Q 987 |
| 基金项目:广西科学自然基金资助项目（编号：桂科自0832139） |
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| Study on relative risk of Parkinson′s disease in Chinese classified common mtDNA haplogroups |
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GUO Cai-hua, YUAN Zhi-gang, LUO Shu-guang, et al.
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Department of Neurology, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China
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| Abstract: |
| ［Abstract］ 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 genotyped by PCR-RFLP method.Results 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. |
| Key words: Mitochondrial DNA Haplogroup Parkinson′s disease(PD) |
