Tags

Type your tag names separated by a space and hit enter

Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1: identification of a new distal recombinant.
Hum Genet. 1995 Oct; 96(4):377-87.HG

Abstract

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder that predisposes affected individuals to neoplasms of the parathyroid glands, endocrine pancreas, anterior pituitary, and carcinoids. The MEN1 locus has been localized by family studies to 11q13, flanked by markers PGA and D11S97. Eight new polymorphisms located in three separate radiation-reduced somatic cell hybrid segregation groups were developed. The order of the new markers, within the context of previously described loci, was determined by linkage analysis on the Venezuelan reference pedigree. Four independent MEN1 families, consisting of 57 affected individuals, and 70 individuals at-risk for the disease were genotyped. Sixteen people inherited a chromosome that shows recombination between a linked marker and the disease. The nearest proximal and distal markers that show recombination with the disease are D11S822 and GSTP1, respectively, thereby narrowing the candidate region for MEN1 by 50% on the distal side. Using these loci in haplotype analysis, an accurate presymptomatic molecular diagnostic test has been developed. These new markers in 11q13 linked to MEN1 also facilitate the genetic and physical characterization of this very gene-rich region.

Authors+Show Affiliations

Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7557957

Citation

Smith, C M., et al. "Mapping Eight New Polymorphisms in 11q13 in the Vicinity of Multiple Endocrine Neoplasia Type 1: Identification of a New Distal Recombinant." Human Genetics, vol. 96, no. 4, 1995, pp. 377-87.
Smith CM, Wells SA, Gerhard DS. Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1: identification of a new distal recombinant. Hum Genet. 1995;96(4):377-87.
Smith, C. M., Wells, S. A., & Gerhard, D. S. (1995). Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1: identification of a new distal recombinant. Human Genetics, 96(4), 377-87.
Smith CM, Wells SA, Gerhard DS. Mapping Eight New Polymorphisms in 11q13 in the Vicinity of Multiple Endocrine Neoplasia Type 1: Identification of a New Distal Recombinant. Hum Genet. 1995;96(4):377-87. PubMed PMID: 7557957.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1: identification of a new distal recombinant. AU - Smith,C M, AU - Wells,S A, AU - Gerhard,D S, PY - 1995/10/1/pubmed PY - 1995/10/1/medline PY - 1995/10/1/entrez SP - 377 EP - 87 JF - Human genetics JO - Hum Genet VL - 96 IS - 4 N2 - Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder that predisposes affected individuals to neoplasms of the parathyroid glands, endocrine pancreas, anterior pituitary, and carcinoids. The MEN1 locus has been localized by family studies to 11q13, flanked by markers PGA and D11S97. Eight new polymorphisms located in three separate radiation-reduced somatic cell hybrid segregation groups were developed. The order of the new markers, within the context of previously described loci, was determined by linkage analysis on the Venezuelan reference pedigree. Four independent MEN1 families, consisting of 57 affected individuals, and 70 individuals at-risk for the disease were genotyped. Sixteen people inherited a chromosome that shows recombination between a linked marker and the disease. The nearest proximal and distal markers that show recombination with the disease are D11S822 and GSTP1, respectively, thereby narrowing the candidate region for MEN1 by 50% on the distal side. Using these loci in haplotype analysis, an accurate presymptomatic molecular diagnostic test has been developed. These new markers in 11q13 linked to MEN1 also facilitate the genetic and physical characterization of this very gene-rich region. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/7557957/Mapping_eight_new_polymorphisms_in_11q13_in_the_vicinity_of_multiple_endocrine_neoplasia_type_1:_identification_of_a_new_distal_recombinant_ L2 - http://www.diseaseinfosearch.org/result/4954 DB - PRIME DP - Unbound Medicine ER -