PMID- 10425038
OWN - NLM
STAT- MEDLINE
DCOM- 19990820
LR  - 20211203
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 2
DP  - 1999
TI  - New mutations, polymorphisms, and rare variants in the ATM gene detected by a
      novel SSCP strategy.
PG  - 156-62
AB  - The gene for ataxia-telangiectasia, ATM, spans about 150 kb of genomic DNA. ATM
      mutations are found along the entire gene, with no evidence of a mutational hot
      spot. Using DNA as the starting material, we screened the ATM gene in 92 A-T
      patients, using an optimized single-strand conformation polymorphism (SSCP)
      technique that detected all previously known mutations in the polymerase chain
      reaction (PCR) segments being analyzed. To expedite screening, we sequentially
      loaded the SSCP gels with three different sets of PCR products that were
      pretested to avoid overlapping patterns. Many of the DNA changes we detected were
      intragenic polymorphisms. Of an expected 177 unknown mutations, we detected
      approximately 70%, mostly protein truncating mutations (that would have been
      detectable by protein truncation testing if RNA starting material had been
      available). Mutations have now been defined for every exon of the ATM gene.
      Herein, we present 35 new mutations and 34 new intragenic polymorphisms or rare
      variants within the ATM gene. This is the most comprehensive compilation of ATM
      polymorphisms assembled to date. Defining polymorphic sites as well as mutations 
      in the ATM gene will be of great importance in designing automated methods for
      detecting mutations.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Castellvi-Bel, S
AU  - Castellvi-Bel S
AD  - Department of Pathology, School of Medicine, University of California at Los
      Angeles, Los Angeles, California 90095-1732, USA.
FAU - Sheikhavandi, S
AU  - Sheikhavandi S
FAU - Telatar, M
AU  - Telatar M
FAU - Tai, L Q
AU  - Tai LQ
FAU - Hwang, M
AU  - Hwang M
FAU - Wang, Z
AU  - Wang Z
FAU - Yang, Z
AU  - Yang Z
FAU - Cheng, R
AU  - Cheng R
FAU - Gatti, R A
AU  - Gatti RA
LA  - eng
GR  - NS35322/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (DNA Primers)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Proteins)
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  - Ataxia Telangiectasia/*genetics
MH  - Ataxia Telangiectasia Mutated Proteins
MH  - Cell Cycle Proteins
MH  - DNA Mutational Analysis
MH  - DNA Primers/genetics
MH  - DNA-Binding Proteins
MH  - Ethnicity/genetics
MH  - Exons/genetics
MH  - Genetic Techniques
MH  - Humans
MH  - *Mutation
MH  - Peptide Chain Termination, Translational/genetics
MH  - *Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Protein Serine-Threonine Kinases
MH  - Proteins/*genetics
MH  - Tumor Suppressor Proteins
MH  - United States
EDAT- 1999/07/29 00:00
MHDA- 1999/07/29 00:01
CRDT- 1999/07/29 00:00
PHST- 1999/07/29 00:00 [pubmed]
PHST- 1999/07/29 00:01 [medline]
PHST- 1999/07/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:2<156::AID-HUMU7>3.0.CO;2-E [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:2<156::AID-HUMU7>3.0.CO;2-E [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(2):156-62. doi:
      10.1002/(SICI)1098-1004(1999)14:2<156::AID-HUMU7>3.0.CO;2-E.