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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant predisposition to neoplastic lesions of the parathyroid glands, the neuroendocrine pancreas, and the anterior pituitary gland. The predisposing genetic defect was localized to the long arm of chromosome 11 by genetic linkage analysis in three affected families. By analyzing six MEN 1 families with 14 DNA marker systems located close to the MEN 1 gene, we have developed a method to identify carriers of the MEN 1 predisposition. We describe practical aspects of such DNA-based diagnostic procedures.
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PMID:Practical guidelines for DNA-based testing in multiple endocrine neoplasia type 1. 136

We have analyzed DNA marker typing data contributed by six independent groups to estimate the pairwise genetic distances between these markers and the locus for multiple endocrine neoplasia type 2A (MEN 2A). We used LIPED to calculate these distances for female, male, and sex-average linkage maps and to determine the corresponding LOD scores. The preliminary analyses of this large data set (89 MEN 2A families and five non-MEN 2A references families, with 1,934 total individuals) are reported here. These refined estimates of the genetic map in this region will aid in the assignment of presymptomatic diagnoses. This study clearly points out the limitation of pairwise linkage analysis in further refining the position of MEN2A in this small region of chromosome 10. Further refinement of the genetic map position of MEN2A will be best accomplished by finding, verifying, and accurately mapping crossovers in specific families.
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PMID:A preliminary analysis of consortium data for markers tightly linked to multiple endocrine neoplasia type 2A. 136 6

The ret proto-oncogene has been mapped to 10q11.2 near the MEN2A locus by in situ hybridization. We carried out a linkage study of Japanese multiple endocrine neoplasia type 2A (MEN2A) families using a cosmid clone containing the ret proto-oncogene as probe. Two polymorphic alleles (A1 and A2) could be detected by digesting DNA with EcoRI: allele A1 was detected as a 10 kb fragment and A2 as 5.4 and 4.6 kb fragments. Of 11 Japanese MEN2A families analysed, four were informative, and the maximum lod score was 4.23 at a recombination fraction of 0.00. This result suggests the ret proto-oncogene to be close to the MEN2A gene and therefore possibly to be a useful DNA marker for cloning the latter.
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PMID:Tight linkage of the ret proto-oncogene with the multiple endocrine neoplasia type 2A locus. 168 18

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

It is now widely accepted that human neoplasms arise as a result of a sequence of mutations affecting the structure of genes involved in growth control. In humans, indirect measurements based on age dependent tumor incidence predict that, on average, the accumulation of 5 to 6 different steps is needed to initiate tumor formation. These mutations do not appear to be random, in that certain neoplasms show prediction for structural aberrations in specific genes. In thyroid tumors, some of gene abnormalities were found. The point mutations of ras oncogenes, predominantly H-ras codon 12, are found in 20-25% of follicular adenomas and papillary carcinomas. Recently, the gene rearrangements of the oncogenes trk and ret were identified in the DNA from papillary carcinomas. About 25% of papillary carcinomas contained an introchromosomal (10q) gene rearrangement involving the tyrosine kinase domain of the ret oncogene with an unknown amino-terminal sequence. The mutations of trk and/or ret were not observed in other thyroid neoplastic phenotypes. In medullary thyroid carcinoma, which is a tumor of the parafollicular, calcitonin-secreting C cell of the thyroid, approximately 20% of patients have autosomal dominant inherited forms. Germ line abnormalities on chromosome 10 are linked to at least one type of genetic medullary thyroid carcinoma (MEN type 2a). In the present time, the person who has the abnormality of gene causing MEN type 2a is able to detect by using DNA marker before the onset of tumor.
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PMID:[Thyroid carcinoma]. 198 98

The gene responsible for multiple endocrine neoplasia type 2A (MEN2A) has recently been assigned to the pericentromeric region of chromosome 10 in European Caucasian kindreds by linkage analysis using a DNA marker, interstitial retinol-binding protein 3 (RBP3). We have found tight linkage between the MEN2A and RBP3 loci in Japanese MEN2A kindreds. The maximum lod score is 5.19 at a recombination fraction of 0.00. This result suggests that mutation of a certain gene close to RBP3 is responsible for MEN2A irrespective of ethnic backgrounds.
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PMID:Close linkage of MEN2A with RBP3 locus in Japanese kindreds. 256 78

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