摘要
目的 :研究人类锰超氧化物歧化酶 (Mn SOD)基因的单核苷酸多态性 (SNP)与帕金森氏病 (PD)的遗传易感性的关系 ,为寻找 PD的易感基因或抗病基因提供线索。方法 :应用聚合酶链反应 -限制性片段长度多态性技术 (PCR- RFL P)对 14 0例日本 PD患者和 2 0 0例正常健康对照者进行 Mn SOD线粒体靶序列的 1183位点 T/ CSNP频率检测 ,此一基因替换导致Mn SOD第 9位的缬氨酸 (GTT)被丙氨酸 (GCT )取代。结果 :与对照组相比 ,PD患者组的 C等位基因频率明显升高(P<0 .0 5 )。结论 :PD患者的 Mn SOD线粒体靶序列的编码丙氨酸的等位基因
Objective: To explore the relationship between human manganese superoxide dismutase(MnSOD)allele gene polymorphism and the genetic susceptibility of Parkinson's disease(PD), and to give a clue to detecting the vulnerable gene or the resistant gene to the disease. Methods:In 140 Japanese patients with PD and 200 healthy control subjects, the 1183 T/C allele frequency in the mitochondrial targeting sequence of MnSOD, which changes the amino acid codon at site 9 in the peptide from valine(GTT) to alanine(GCT), was examined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results: Parkinsonian patients had a much higher incidence of the MnSOD gene C allele (P<0.05) compared with the controls. Conclusions: the present study suggested that C allele in the mitochondria targeting sequence in the human MnSOD, which codes -9 Alanine, might be closely related to the genetic susceptibility to PD.
出处
《黑龙江医药科学》
2004年第2期22-23,共2页
Heilongjiang Medicine and Pharmacy
