Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The locus of the autosomal recessive disorder ataxia-telangiectasia (A-T) has been assigned by linkage analysis with biallelic markers to a 4-Mb interval on chromosome 11q22-23, between GRIA4 and D11S1897. We have undertaken to saturate the A-T region with highly polymorphic microsatellite markers. To this end, we have identified seven new polymorphic CA-repeats in this region, and have mapped to it five new markers generated by Genethon and the Cooperative Human Linkage Center. These markers are in addition to 12 others that we have previously mapped or generated at the A-T locus. All 24 markers have been integrated into a high-density microsatellite map spanning some 6 Mb DNA. This map, which contains the A-T locus and flanking sequences, allows the construction of extensive, highly informative haplotypes.
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PMID:A high-density microsatellite map of the ataxia-telangiectasia locus. 770 45

We have constructed a long-range physical map for 12 markers, including genes for GRIA4, IL1BC, and ACAT, across 9 Mb of chromosome 11q22-q23 in the region of the major locus for ataxia-telangiectasia (A-T). The markers fall into proximal and distal groups with respect to the centromere. We have linked the proximal and distal groups by hybridization to a 2.7-Mb NotI fragment and a 4.6-Mb MluI fragment. The following locus order was obtained: centromere-CJ52.75-J12.1C2-Y11B11R-IL1BC-+ ++hbcDNA-GRIA4-CJ52.3-Y11B29L-ACAT- CJ52.193-J12.8-Y11B06R-telomere. We show that hbcDNA/GRIA4 and CJ52.3 are very closely linked to each end, respectively, of the 2.7-Mb NotI fragment, thereby fixing the position of the complete contig. Our results indicate that the gene for A-T is flanked by the markers GRIA4 and J12.8, which are no more than 3 Mb apart, on a 4.6-Mb MluI fragment. The physical map allows rapid positioning of markers, and this will facilitate the construction of a YAC contig across the region.
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PMID:A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasia. 795 39

A human-mouse monochromosomal hybrid that contains a human t(X;11) translocated chromosome carrying pter-->q23 segment of chromosome 11 was used to construct a panel of radiation-reduced hybrids. The hypoxhanthine phosphoribosyltransferase (HPRT) gene located close to the translocation breakpoint was used as a marker to select for the hybrids that preferentially retain the 11q22-23 region. Twenty-three HAT-resistant hybrids were isolated and screened by polymerase chain reaction (PCR) for the retention of 31 loci on 11q22-23 region. Among the 14 hybrids that had breakpoints within the 11q22-23 region, 6 hybrids contained fragments that extend either from centromere or telomere to the 5-Mb region spanned by GRIA4 and FDX, carrying various breakpoints within the region. This subpanel could be a potential resource to analyze the ataxia-telangiectasia disease locus and its neighboring region.
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PMID:Generation of a panel of radiation-reduced hybrids containing human 11q22-23 fragments bearing a HPRT selective marker: identification of hybrids carrying various subregions around the ataxia-telangiectasia locus. 913 Oct 19