Klein C, Vieregge P, Hagenah J, Sieberer M, Doyle E, Jacobs H, Gasser T, Breakefield X O, Risch N J, Ozelius L J
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA.
Ann Hum Genet. 1999 Jul;63(Pt 4):285-91. doi: 10.1046/j.1469-1809.1999.6340285.x.
A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. We evaluated 85 German PD patients and 85 ethnically matched controls for shared markers on chromosome 2p and for the new alpha-synuclein mutation. We found no evidence for linkage disequilibrium, suggesting that the putative founder mutation on chromosome 2p is not a common cause of PD in the local population. Furthermore, no patient carried the Ala30Pro change, supporting earlier findings that mutations in the alpha-synuclein gene are extremely rare.
对于两个北欧血统的家族,已推测2号染色体短臂上存在一个常染色体显性帕金森病(PD)的奠基者单倍型,并且在一个德国帕金森病家族中发现了α-突触核蛋白基因的一个新突变(丙氨酸30→脯氨酸)。我们评估了85名德国帕金森病患者和85名种族匹配的对照者,检测其2号染色体短臂上的共享标记以及新的α-突触核蛋白突变。我们未发现连锁不平衡的证据,这表明推测的2号染色体短臂上的奠基者突变并非当地人群帕金森病的常见病因。此外,没有患者携带丙氨酸30→脯氨酸的改变,这支持了早期的研究结果,即α-突触核蛋白基因的突变极其罕见。