[ATM gene mutations in Chinese patients with ataxia telangiectasia]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Apr;22(2):121-4.
[Article in Chinese]

Abstract

Objective: To investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).

Methods: Mutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.

Results: A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.

Conclusion: Totally three novel ATM gene mutations were identified in two Chinese AT patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia Telangiectasia Mutated Proteins
  • Base Sequence
  • Cell Cycle Proteins / genetics*
  • Child
  • China
  • Codon, Nonsense
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Frequency
  • Humans
  • Male
  • Mutation*
  • Mutation, Missense
  • Protein Serine-Threonine Kinases / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Spinocerebellar Ataxias / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • Cell Cycle Proteins
  • Codon, Nonsense
  • DNA-Binding Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases