Lincoln S, Crook R, Chartier-Harlin M C, Gwinn-Hardy K, Baker M, Mouroux V, Richard F, Becquet E, Amouyel P, Destée A, Hardy J, Farrer M
Mayo Clinic Jacksonville, FL 32224, USA.
Neurosci Lett. 1999 Jul 9;269(2):107-9. doi: 10.1016/s0304-3940(99)00420-6.
We present 11 families consistent with autosomal dominant inheritance of probable Parkinson's disease (PD). Although excluded as a cause of disease in these kindreds, mutations in the alpha-synuclein gene have been implicated in familial PD. The beta-synuclein gene is highly homologous, expressed in the nervous system and thus is a good candidate gene for PD. Multipoint linkage analysis was either equivocal or excluded 5q35 haplotype sharing among affected family members. Sequencing the translated exons of the beta-synuclein gene failed to identify any pathogenic mutation.
我们展示了11个与可能的帕金森病(PD)常染色体显性遗传相符的家族。尽管在这些家族中已排除α-突触核蛋白基因突变作为疾病病因,但它与家族性PD有关。β-突触核蛋白基因高度同源,在神经系统中表达,因此是PD的一个良好候选基因。多位点连锁分析在受影响的家族成员中要么模棱两可,要么排除了5q35单倍型共享。对β-突触核蛋白基因的翻译外显子进行测序未能识别出任何致病突变。