PMID- 10234507
OWN - NLM
STAT- MEDLINE
DCOM- 19990628
LR  - 20220129
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 3
DP  - 1999 Apr
TI  - Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of
      mismatch: identification of four novel mutations.
PG  - 310-20
AB  - 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.
FAU - Izatt, L
AU  - Izatt L
AD  - Division of Medical and Molecular Genetics GKT, Guy's Hospital, London, UK.
      l.izatt@umds.ac.uk
FAU - Vessey, C
AU  - Vessey C
FAU - Hodgson, S V
AU  - Hodgson SV
FAU - Solomon, E
AU  - Solomon E
LA  - eng
GR  - G9600577/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Fluorescent Dyes)
RN  - 0 (Proteins)
RN  - 0 (Reagent Kits, Diagnostic)
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 2.7.11.1 (ATM protein, human)
RN  - EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Alleles
MH  - Alternative Splicing
MH  - Ataxia Telangiectasia/*genetics
MH  - Ataxia Telangiectasia Mutated Proteins
MH  - Blotting, Western
MH  - Cell Cycle Proteins
MH  - Child
MH  - Child, Preschool
MH  - DNA-Binding Proteins
MH  - Female
MH  - *Fluorescent Dyes
MH  - Frameshift Mutation
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Mutation, Missense
MH  - *Protein Serine-Threonine Kinases
MH  - Proteins/*genetics
MH  - Reagent Kits, Diagnostic
MH  - Time Factors
MH  - Tumor Suppressor Proteins
EDAT- 1999/05/11 00:00
MHDA- 1999/05/11 00:01
CRDT- 1999/05/11 00:00
PHST- 1999/05/11 00:00 [pubmed]
PHST- 1999/05/11 00:01 [medline]
PHST- 1999/05/11 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200288 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Apr;7(3):310-20. doi: 10.1038/sj.ejhg.5200288.