摘要
目的观察散发性早发帕金森病(Parkinsons disease,PD)患者遗传易感基因突变的形式和分布,探讨易感基因突变在PD发病中的可能作用。方法病例组由13例散发性早发帕金森患者组成。以基因组DNA为模板,扩增Parkin基因的第1、4、6号外显子和LRRK2基因的第31号外显子。观察PCR产物测序后的突变情况。结果发现样本中存在突变,在正常人中存在单核苷酸多态性(single nucleotide polymorphism,SNP)。结论Parkin基因外显子的突变是我国散发性早发PD患者的致病原因之一。
Objective： Study on the mutation of Parkin gene in early - onset Parkinson＇s disease and analyze the effects of mutations on its function. Methods： The genomic DNA was extracted from 13 patients with early - onset Parkinson＇s disease. Three exons of Parkin gene： exon 1, exon4, exon6, and the exon 31 of LRRK2 gene were amplified. All of these were hot - points of gene mutations related to Parkinson＇s disease. Results ： There were some exons of Parkin gene with deletions in the PD patients, and we found single nucleotide polymorphism in normal people. Conclusion： The mutations of Parkin gene and LRRK2 gene are pathogenesis of early - onset Parkinson＇s disease.
出处
《中国优生与遗传杂志》
2007年第11期16-17,20,共3页
Chinese Journal of Birth Health & Heredity
