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  

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

作　　者：陈曦[1] 刘跃亭[2] 黎锦如[1] 陈玲[1] 徐严明[3] 潘勇辉[1] 孟晓红[2] 邢世会[1] 

机构地区：[1]中山大学附属第一医院神经内科,广州510080 [2]山西医科大学附属第一医院神经外科 [3]四川大学华西医院神经内科

出　　处：《中华医学遗传学杂志》2003年第6期536-538,共3页Chinese Journal of Medical Genetics

基　　金：卫生部重点项目基金 (2 0 0 1 32 1 )~~

摘　　要：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 conformationalpolymorphism ,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 2 3位和 6 7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(2 3ins c和 6 7ins t)。Objective To study the relationship of Chinese familial Parkinson disease with α-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 α-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 α-synuclein gene are not the mutational hot spots of Chinese familial Parkinson disease. (2) Two polymorphisms were found in intron 4 of α-synuclein gene. They are 23 ins c and 67 ins t.

关 键 词：家族性帕金森病 α-共核蛋白基因 第3外显子 第4外显子 相关性 基因多态性 

分 类 号：R742.5[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]