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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1996-8-1
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pubmed:abstractText |
We have examined the distal half of the ataxia-telangiectasia (A-T) gene transcript for truncation mutations in 48 A-T affecteds. We found 21 mutations; 4 of the mutations were seen in more than one individual. Genotyping of the individuals sharing mutations, by using nearby microsatellite markers, established that three of the four groups shared common haplotypes, indicating that these were probably founder effects, not public mutations. The one public mutation was found in two American families, one of Ashkenazi Jewish background and the other not. Most truncations deleted the PI3-kinase domain, although some exceptions to this were found in patients with typical A-T phenotypes. All patients not previously known to be consanguineous were found to be compound heterozygotes when mutations could be identified--that is, normal and abnormal protein segments were seen on SDS-PAGE gels. All 48 patients gave RT-PCR products, indicating the presence of relatively stable mRNAs despite their mutations. These results suggest that few public mutations or hot spots can be expected in the A-T gene and that epidemiological studies of A-T carrier status and associated health risks will have to be designed around populations with frequent founder-effect mutations, despite the obvious limitations of this approach.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-124481,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-1248000,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-1961222,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-2005780,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-2440339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-3200306,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-3574400,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-7482757,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-7569949,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-7611278,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-7611279,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-7663517,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-7671296,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-7792600,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-7836853,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-8234293,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-8268929,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-8533147,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-8589678,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8659541-8845835
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
40-4
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pubmed:dateRevised |
2011-11-2
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pubmed:meshHeading |
pubmed-meshheading:8659541-Ataxia Telangiectasia,
pubmed-meshheading:8659541-Base Sequence,
pubmed-meshheading:8659541-Cell Cycle Proteins,
pubmed-meshheading:8659541-Consanguinity,
pubmed-meshheading:8659541-DNA, Complementary,
pubmed-meshheading:8659541-DNA Mutational Analysis,
pubmed-meshheading:8659541-DNA Primers,
pubmed-meshheading:8659541-DNA-Binding Proteins,
pubmed-meshheading:8659541-Ethnic Groups,
pubmed-meshheading:8659541-Female,
pubmed-meshheading:8659541-Founder Effect,
pubmed-meshheading:8659541-Genetic Techniques,
pubmed-meshheading:8659541-Heterozygote,
pubmed-meshheading:8659541-Humans,
pubmed-meshheading:8659541-Male,
pubmed-meshheading:8659541-Molecular Sequence Data,
pubmed-meshheading:8659541-Polymerase Chain Reaction,
pubmed-meshheading:8659541-Protein-Serine-Threonine Kinases,
pubmed-meshheading:8659541-Proteins,
pubmed-meshheading:8659541-Sequence Deletion,
pubmed-meshheading:8659541-Tumor Suppressor Proteins
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pubmed:year |
1996
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pubmed:articleTitle |
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.
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pubmed:affiliation |
Department of Pathology, School of Medicine, University of California, Los Angeles, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
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