IMPROVED CARRIER TESTING FOR MULTIPLE ENDOCRINE NEOPLASIA, TYPE-1, USING NEW MICROSATELLITE-TYPE DNA MARKERS

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 lin kage 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 r egion. Three of the loci concerned, D11S913, D11S987, and D11S1337, di splayed maximum lod scores (Z(max)) 6.70, 9.88, and 2.54, respectively , with no recombinations with the disease gene, whereas a Z(max) of 8. 43 was obtained for D11S971 at a recombination fraction of 0.03. Our r esults indicate that the use of this set of markers considerably impro ves the diagnostic value of genotyping patients at risk of developing MEN1.