El-Agnaf O M, Curran M D, Wallace A, Middleton D, Murgatroyd C, Curtis A, Perry R, Jaros E
School of Biology and Biochemistry, Queen's University of Belfast, Northern Ireland Histocompatibility and Immunogenetics Laboratory, Belfast City Hospital.
Neuroreport. 1998 Dec 1;9(17):3925-7. doi: 10.1097/00001756-199812010-00029.
Recently it has been reported that a missense G(88)C mutation within exon 3 and a missense G(209)A mutation within exon 4 of the alpha-synuclein gene were linked to familial Parkinson's Disease (PD). We decided to investigate if these and any other mutations in exons 3 and 4 of the alpha-synuclein gene could be detected in sixty two sporadic PD and dementia with Lewy bodies (DLB) patients. Four cases of familial DLB were also studied, two of which were from the same family. Single stranded conformational polymorphism, DNA sequencing analyses and PCR-RFLP of exons 3 and 4 failed to reveal any nucleotide changes. However, three nucleotide differences occurred in the intron 4 sequence compared to the published sequence. This study adds further support to the idea that these particular mutation in the alpha-synuclein gene are a rare case of PD and now, as we have shown here, also of DLB.
最近有报道称，α-突触核蛋白基因第3外显子内的错义G(88)C突变和第4外显子内的错义G(209)A突变与家族性帕金森病(PD)有关。我们决定研究在62例散发性PD和路易体痴呆(DLB)患者中是否能检测到α-突触核蛋白基因第3和第4外显子中的这些以及其他任何突变。还研究了4例家族性DLB病例，其中2例来自同一家族。第3和第4外显子的单链构象多态性、DNA测序分析和PCR-RFLP均未发现任何核苷酸变化。然而，与已发表序列相比，第4内含子序列出现了3个核苷酸差异。这项研究进一步支持了这样一种观点，即α-突触核蛋白基因中的这些特定突变在PD中是罕见的情况，而正如我们在此所示，在DLB中也是如此。
