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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>
Subject(s)
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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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