Mapping a dominant form of multinodular goiter to chromosome Xp22

F. Capon, A. Tacconelli, E. Giardina, S. Sciacchitano, R. Bruno, V. Tassi, V. Trischitta, S. Filetti, B. Dallapiccola, G. Novelli

Research output: Contribution to journalArticle


Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland and occurring with a female:male ratio of 5:1. 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.

Original languageEnglish
Pages (from-to)1004-1007
Number of pages4
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - 2000


ASJC Scopus subject areas

  • Genetics

Cite this

Capon, F., Tacconelli, A., Giardina, E., Sciacchitano, S., Bruno, R., Tassi, V., Trischitta, V., Filetti, S., Dallapiccola, B., & Novelli, G. (2000). Mapping a dominant form of multinodular goiter to chromosome Xp22. American Journal of Human Genetics, 67(4), 1004-1007.