Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations

Eur J Hum Genet. 1999 Apr;7(3):310-20. doi: 10.1038/sj.ejhg.5200288.

Abstract

Mutations in the Ataxia Telangiectasia Mutated (ATM) gene are responsible for the autosomal recessive disease Ataxia Telangiectasia (A-T). A wide variety of mutations scattered across the entire coding region (9168bp) of ATM have been found, which presents a challenge in developing an efficient mutation screening strategy for detecting unknown mutations. Fluorescent chemical cleavage of mismatch (FCCM) is an ideal mutation screening method, offering a non-radioactive alternative to other techniques such as restriction endonuclease fingerprinting (REF). Using FCCM, we have developed an efficient, accurate and sensitive mutation detection method for screening RT-PCR products for ATM mutations. We have identified seven ATM mutations in five A-T families, four of which are previously unknown. We quantified ATM protein expression in four of the families and found variable ATM protein expression (0-6.4%), further evidence for mutant ATM protein expression in both classic and variant A-T patients. We conclude that FCCM offers a robust ATM mutation detection method and can be used to screen for ATM mutations in cancer-prone populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Alternative Splicing
  • Ataxia Telangiectasia / genetics*
  • Ataxia Telangiectasia Mutated Proteins
  • Blotting, Western
  • Cell Cycle Proteins
  • Child
  • Child, Preschool
  • DNA-Binding Proteins
  • Female
  • Fluorescent Dyes*
  • Frameshift Mutation
  • Humans
  • Male
  • Mutation*
  • Mutation, Missense
  • Protein Serine-Threonine Kinases*
  • Proteins / genetics*
  • Reagent Kits, Diagnostic
  • Time Factors
  • Tumor Suppressor Proteins

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Fluorescent Dyes
  • Proteins
  • Reagent Kits, Diagnostic
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases