A new point mutation on exon 2 of parkin gene in Parkinson's disease.
- Author:
Yanming XU
1
;
Zhuolin LIU
;
Yukai WANG
;
Enxiang TAO
;
Guojun CHEN
;
Biao CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Aged, 80 and over; Exons; Female; Humans; Ligases; genetics; Male; Middle Aged; Parkinson Disease; genetics; Point Mutation; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA; Ubiquitin-Protein Ligases
- From: Chinese Journal of Medical Genetics 2002;19(5):409-411
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the relationship between point mutations on exon 2 of parkin gene and sporadic early-onset Parkinson's disease.
METHODSThe point mutations on exon 2 of parkin gene were detected using polymerase chain reaction(PCR), agarose electrophoresis, single strand conformation polymorphism(SSCP), DNA sequencing and analysis of restrict enzyme in DNA of 60 Parkinson's disease patients with an onset age under 50 and 120 normal controls.
RESULTSOne homozygous mutation (G(237)-->C) on exon 2 was found by sequencing and verified by analysis of restrict enzyme, whereas no mutation was found in normal controls.
CONCLUSIONPoint mutations on exon 2 of parkin gene are likely to be related to sporadic early-onset Parkinson's disease.
