家族性帕金森病α-共核蛋白基因第3、4外显子的初步研究

目的 分析家族性帕金森病与α-共核蛋白基因的相关性，在其第3、4外显子中寻找相关突变或多态。方法 收集中国帕金森病家系，采用单链构象多态性(single strand conformational polymorphism，SSCP)与异源双链(heteroduplex analysis，HA)分析相结合的方法，筛查α-共核蛋白第3、4外显子中是否存在致病性突变。结果 SSCP和HA分析第3、4外显子未见单双链泳动异常。基因测序发现第4内含子5′端的第23位和67位分别插入1个c和t。结论 (1)α-共核蛋白基因的第3、4外显子不是中国家族性帕金森病的突变热点；(2)发现α-共核蛋白基因第4内含子在不同人群中有两个多态位点(23ins c和67ins t)。

Study on exons 3 and 4 of α-synuclein gene in Chinese familial Parkinson disease patients

OBJECTIVE: To study the relationship of Chinese familial Parkinson disease with alpha-synuclein gene. METHODS: Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and polymerase chain reaction-heteroduplex analysis(PCR-HA) were employed to detect the abnormal mobilization in the familial Parkinson disease and sporadic Parkinson disease patients, then it was verified by gene sequencing. RESULTS: No mutation was found in alpha-synuclein gene exons 3 and 4 by PCR-SSCP together with PCR-HA. An inserted c and an inserted t were found in intron 4, position 23 and position 67 respectively. CONCLUSION: (1) Exons 3 and 4 of alpha-synuclein gene are not the mutational hot spots of Chinese familial Parkinson disease. (2) Two polymorphisms were found in intron 4 of alpha-synuclein gene. They are 23 ins c and 67 ins t.