Document Detail


Improved carrier testing for multiple endocrine neoplasia, type 1, using new microsatellite-type DNA markers.
MedLine Citation:
PMID:  7557969     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Familial multiple endocrine neoplasia, type 1 (FMEN1), is an autosomal dominant trait generated by hyperfunction of various endocrine glands. The gene for MEN1 has been mapped to chromosome 11q13 by genetic linkage and deletion mapping in tumors. Eight Finnish families, including 46 individuals carrying the risk haplotype, have been typed for four polymorphic microsatellite DNA markers spanning the MEN1 chromosomal region. Three of the loci concerned, D11S913, D11S987, and D11S1337, displayed maximum lod scores (Zmax) 6.70, 9.88, and 2.54, respectively, with no recombinations with the disease gene, whereas a Zmax of 8.43 was obtained for D11S971 at a recombination fraction of 0.03. Our results indicate that the use of this set of markers considerably improves the diagnostic value of genotyping patients at risk of developing MEN1.
Authors:
S Kytölä; J Leisti; R Winqvist; P Salmela
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  96     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1995 Oct 
Date Detail:
Created Date:  1995-11-20     Completed Date:  1995-11-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  449-53     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, Oulu University Central Hospital, Finland.
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MeSH Terms
Descriptor/Qualifier:
Alleles
DNA, Satellite / analysis*
Female
Genetic Markers
Heterozygote*
Humans
Male
Multiple Endocrine Neoplasia Type 1 / genetics*
Pedigree
Chemical
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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