Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The gene for multiple endocrine neoplasia type 2A (MEN 2A) is closely linked to RBP3 (retinol-binding protein 3, interstitial, probe IRBP.H4) and the DNA marker D10S15 (probe pMCK2), which have been assigned to the proximal long arm of chromosome 10 by linkage analysis both in Caucasian and Japanese populations. We have constructed a rare-cutting restriction map around the RBP3 and D10S15 loci by pulsed-field gel electrophoresis (PFGE). The RBP3 and D10S15 loci appeared to be within a single 160 kb MluI fragment. In 5 patients with MEN 2A, gene rearrangements, such as a gross deletion, were not found in the 880 kb NruI fragment which covered the closest region to the MEN-2A locus from the RBP3 and D10S15 loci.
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PMID:Mapping of the genes around MEN2A locus using pulsed-field gel electrophoresis. 198 37

The sequence of studies leading to the assignment of the locus for multiple endocrine neoplasia (MEN2A) to chromosome 10 are described. They began with the exclusion of linkage between the disease locus and loci for conventional markers and a deletion site reported to be associated with the disease on chromosome 20. After 32% of the genome had been excluded, a "hint" of linkage was found but considerable additional family data were necessary in order to establish linkage to the marker locus D10S5. The DNA marker D10S5 was assigned to chromosome 10 by in situ hybridization and tests of linkage between the marker and disease loci were significant. The assignment of the marker and the linkage implied that the disease gene was on chromosome 10. The assignment was confirmed by the demonstration of an additional linkage, between the disease locus and the gene for interstitial retinol binding protein (RBP3) that had also been assigned to chromosome 10. Closer and flanking markers are now being sought as steps to providing better than Mendelian risks for the MEN2A genotype and for the ultimate identification of the gene.
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PMID:The mapping of the locus for multiple endocrine neoplasia type 2A by linkage with chromosome 10 markers. 257 29

Multiple endocrine neoplasia types 2A and 2B (MEN 2A and MEN 2B) and familial medullary thyroid carcinoma (FMTC) are dominantly inherited cancers that have in common the clinical feature of medullary thyroid carcinoma (MTC). We have performed both genomic long-range restriction mapping and yeast artificial chromosome (YAC) contig assembly and restriction mapping to establish physical linkage, order, and distances between six loci in 10q11.2 near the genes responsible for these hereditary cancers. RET, D10S94, D10S182, and D10S102 have been mapped in genomic DNA. RET, D10S94, D10S182, D10F38S3, and the 10q11.2 sequences detected by DNA marker DM124 are encompassed by a 1-Mb YAC contig. Six physically linked loci are within 1.4 Mb and have an order and orientation of 10cen, D10F38S3, DM124, RET, D10S94, D10S182, D10S102, 10qter. Mutations in the RET proto-oncogene have recently been demonstrated to be associated with MEN 2A and FMTC. RET is located within a genetically defined MEN2A candidate interval between D10S141 and D10S94; MEN2B has been mapped to a larger, overlapping region between D10S141 and a more distal locus, RBP3. Both our genomic physical map and our YAC contig span the entire MEN2A candidate region and overlap with that of MEN2B. These maps will facilitate the identification of genes that can be considered candidates for MEN2B and the identification of tumor-specific alterations important in sporadic MTC.
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PMID:Genomic and yeast artificial chromosome long-range physical maps linking six loci in 10q11.2 and spanning the multiple endocrine neoplasia type 2A (MEN2A) region. 790 24