title: Mapping a dominant form of multinodular goiter to chromosome Xp22.
abstract: Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland and occurring with a female&rcolon;male ratio of 5&rcolon;1. This article reports the analysis of an Italian three-generation pedigree MNG, including 10 affected females and 2 affected males. After linkage to candidate regions previously implicated in various forms of goiter was excluded, a novel MNG locus was searched. Because no male-to-male transmission was present in the study pedigree, an X-linked autosomal dominant pattern of inheritance was hypothesized. Therefore, 18 markers spaced at 10-cM intervals on the X chromosome were examined. A significant LOD score was observed in the Xp22 region, where marker DXS1226 generated a maximum LOD score of 4.73 at a recombination fraction of 0. Analysis of six flanking microsatellites confirmed these data, and haplotype inspection delimited a 9.6-cM interval lying between DXS1052 and DXS8039.
authors.affiliation: Department of Biopathology, "Tor Vergata" University of Rome, Rome, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Capon
authors.forename: A
authors.initials: A
authors.lastname: Tacconelli
authors.forename: E
authors.initials: E
authors.lastname: Giardina
authors.forename: S
authors.initials: S
authors.lastname: Sciacchitano
authors.forename: R
authors.initials: R
authors.lastname: Bruno
authors.forename: V
authors.initials: V
authors.lastname: Tassi
authors.forename: V
authors.initials: V
authors.lastname: Trischitta
authors.forename: S
authors.initials: S
authors.lastname: Filetti
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: G
authors.initials: G
authors.lastname: Novelli
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006044:Goiter, Nodular / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007558:Italy; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D014960:X Chromosome / Q000235:genetics*