Identification of ATXN3 intermedial allele associated with a disease phenotype in an SCA3 Han Chinese family.
- VernacularTitle:一个遗传性共济失调3型家系中致病ATXN3中间类型等位基因分析
- Author:
Jia YU
1
;
Jian-hua MA
;
Xiao-ning ZHANG
;
Jing LEI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Alleles; Asian Continental Ancestry Group; ethnology; genetics; Ataxin-3; Base Sequence; Ethnic Groups; genetics; Female; Genetic Loci; genetics; Humans; Machado-Joseph Disease; genetics; Male; Middle Aged; Molecular Sequence Data; Mutation; Nerve Tissue Proteins; genetics; Nuclear Proteins; genetics; Phenotype; Repetitive Sequences, Nucleic Acid; Repressor Proteins; genetics
- From: Chinese Journal of Medical Genetics 2010;27(2):190-193
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical manifestation and the mutation characteristics of intermedial allele associated with a disease phenotype of a Machado-Joseph disease (MJD) family.
METHODSPolymerase chain reaction, capillary electrophoresis, molecular cloning and sequencing were performed to detect the ATXN3 gene in an spinocerebellar ataxia(SCA) family. The fragments of expanded alleles were subcloned into the pGEM-T plasmids and sequenced.
RESULTSThe expanded repeats at the MJD locus were confirmed by molecular technique. The proband had 43 CAG repeats at the MJD locus. He had two sons with 41 and 64 repeats in the expanded allele respectively.
CONCLUSIONA 43 CAG repeat allele was unstable upon inter-generational transmission. The change of the CAG repeat was bidirectional. This is the shortest expanded allele associated with a disease phenotype in the MJD gene reported to date. The identification of the MJD family has reduced the amplitude between the normal and expanded allele repeats.
