Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 646-648, 2008.
Article
in Chinese
| WPRIM
| ID: wpr-308001
ABSTRACT
<p><b>OBJECTIVE</b>To study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China.</p><p><b>METHODS</b>The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was detected by PCR, digested with EcoN I, separated on 8% polyacrylamide gel in 68 probands of autosomal dominant SCA families and 119 sporadic SCA patients, who had been excluded CAG/CAA repeat expansion at the SCA1, 2, 3, 6, 7, 17 and dentatorubral-pallidolluysian atrophy (DRPLA) loci. The results were confirmed in four patients by direct sequencing.</p><p><b>RESULTS</b>The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was not identified in authors' cohort.</p><p><b>CONCLUSION</b>The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymerase Chain Reaction
/
Cohort Studies
/
Spectrin
/
Spinocerebellar Ataxias
/
Guanine Nucleotide Exchange Factors
/
Polymorphism, Single Nucleotide
/
Asian People
/
Genetics
/
Mutation
Type of study:
Etiology study
/
Incidence study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2008
Type:
Article
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