title: [The study of clinical characteristics and molecular genetics in a large spinocerebellar ataxia3 pedigree].
abstract: OBJECTIVE
  To investigate the clinical manifestations and gene mutations on a large spinocerebellar ataxia 3 pedigree, in order to explore the molecular genetical characteristics in this pedigree.
  
  
  METHODS
  Blood samples from 9 patients and 27 healthy family members in the Department of Neurology of Henan Provincial People's Hospital were collected. The CAG trinucleotide repeats in SCA3 gene in each sample were amplified by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining techniques. The allele fragments were sequenced by biomedical company and the trinucleotide repeats numbers were calculated to identify the genotype.
  
  
  RESULTS
  Nine symptomatic and 9 presymptomatic patients were detected and their CAG repeat numbers were 62-72 and 63-69, respectively. CAG repeat numbers were 12-21 in the other 18 healthy family members.
  
  
  CONCLUSIONS
  We found a large pedigree with the diagnosis of SCA3. The genetic tests of CAG repeat numbers can contribute to clinical diagnose on symptomatic patients and provide informations for presymptomatic patients.
authors.affiliation: Department of Neurology, Henan Provincial People's Hospital, Zhengzhou 450003, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Huang
authors.forename: Mingrong
authors.initials: M
authors.lastname: Xia
authors.forename: Xiuhua
authors.initials: X
authors.lastname: Ren
authors.forename: Shuang
authors.initials: S
authors.lastname: He
authors.affiliation: Emai: zhangjiewen9900@126.com.
authors.forename: Jiewen
authors.initials: J
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020754:Spinocerebellar Ataxias; D018911:Trinucleotide Repeats