Identification of ATXN3 intermedial allele associated with a disease phenotype in an SCA3 Han Chinese family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 190-193, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-349014
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical manifestation and the mutation characteristics of intermedial allele associated with a disease phenotype of a Machado-Joseph disease (MJD) family.</p><p><b>METHODS</b>Polymerase 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>A 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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Repressor Proteins
/
Molecular Sequence Data
/
Nuclear Proteins
/
Base Sequence
/
Repetitive Sequences, Nucleic Acid
/
Ethnicity
/
Machado-Joseph Disease
/
Asian People
/
Alleles
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2010
Type:
Article
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