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目的了解中国家族性帕金森病患者Parkin基因外显子的缺失、重复及其分布。以进一步探讨突变与临床表型之间的关系。方法应用多重聚合酶链式反应(PCR)、变性高效液相色谱(DHPLC)、实时荧光定量PCR等方法检测46例健康对照者和来自29个家系的49例患者DNA样本中Parkin基因1～12外显子的缺失和重复。结果正常对照者中未发现重组;8个家系的17例DNA样本中发现重组,集中在外显子2～5、7。结论Parkin基因的缺失或重复很可能是家族性帕金森病的重要发病原因之一:多重PCR结合DHPLC是一种有效的基因定量方法。
Objective To understand the deletion, duplication and distribution of exon of Parkin gene in patients with familial Parkinson’s disease in China. To further explore the relationship between mutations and clinical phenotypes. Methods Parkin gene 1-12 was detected in DNA samples of 46 healthy controls and 49 patients from 29 pedigrees by multiplex polymerase chain reaction (PCR), denaturing high performance liquid chromatography (DHPLC) and real-time fluorescence quantitative PCR. Exon deletion and duplication. RESULTS: No recombinant was found in the normal controls; 17 of the DNA samples from 8 families were found to be recombinant, concentrating on exon 2 to 5, 7. Conclusions The deletion or duplication of Parkin gene may be one of the important pathogenetic factors of familial Parkinson’s disease. Multiplex PCR combined with DHPLC is an effective method of gene quantification.