Mutation screening in exons 3 and 4 of α‐synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies cases
作者:
Omar El-Agnaf,
Martin Curran,
Andrew Wallace,
Derek Middleton,
Christopher Murgatroyd,
Anne Curtis,
Robert Perry,
Evelyn Jaros,
期刊:
NeuroReport
(OVID Available online 1998)
卷期:
Volume 9,
issue 17
页码: 3925-3927
ISSN:0959-4965
年代: 1998
出版商: OVID
关键词: DNA sequencing;Familial dementia with Lewy body;Parkinson's disease;α-Synuclein mutations
数据来源: OVID
摘要:
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 α-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 α-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 a-synuclein gene are a rare case of PD and now, as we have shown here, also of DLB.
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