title: [Clinical characteristics and genetic mutation analysis in a Hui family with Huntington disease].
abstract: OBJECTIVE
  To perform clinical analysis and gene diagnosis of Huntington disease (HD) in a Hui pedigree from Xinjiang.
  
  
  METHODS
  The IT15 gene mutation of the Hui family was analyzed by touchdown PCR, molecular cloning and gene sequencing.
  
  
  RESULTS
  The proband carried 46 CAG repeats. Pain in bilateral lower limb was the first symptom, followed by symptoms such as dance like involuntary movements, mood disorders, impaired memory and intelligence. Asymptomatic son of the proband carried 44 CAG repeats.
  
  
  CONCLUSIONS
  This family showed reduced CAG trinucleotide repeats of IT15 gene during maternal transmission. A CAA variation is also detected within the CAG repeat region.
authors: Physical Examination and Health Management Center, the First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, People's Republic of China.
authors: Jing
authors: J
authors: Chen
authors: Jing
authors: J
authors: Lei
authors: Xiao-ning
authors: XN
authors: Zhang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins