Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations
| Autor: | Shirley Hodgson, Ellen Solomon, Carina J. Vessey, Louise Izatt |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Adult
Male Time Factors Adolescent Mutant Blotting Western Mutation Missense Cell Cycle Proteins Ataxia Telangiectasia Mutated Proteins Biology Protein Serine-Threonine Kinases medicine.disease_cause Frameshift mutation Ataxia Telangiectasia Genetics medicine Missense mutation Humans Child Frameshift Mutation Gene Genetics (clinical) Alleles Fluorescent Dyes Mutation Tumor Suppressor Proteins Proteins medicine.disease DNA-Binding Proteins Restriction enzyme Alternative Splicing Child Preschool Ataxia-telangiectasia Female Reagent Kits Diagnostic |
| Zdroj: | European journal of human genetics : EJHG. 7(3) |
| ISSN: | 1018-4813 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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