Mapping a dominant form of multinodular goiter to chromosome Xp22

Am J Hum Genet. 2000 Oct;67(4):1004-7. doi: 10.1086/303095. Epub 2000 Sep 11.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Female
  • Genes, Dominant / genetics*
  • Genetic Linkage / genetics*
  • Goiter, Nodular / genetics*
  • Haplotypes / genetics
  • Humans
  • Italy
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Pedigree
  • X Chromosome / genetics*

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