Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre.

ABSTRACT:

Background

Multinodular goitre (MNG) is a common disorder characterised by an enlargement of the thyroid, occurring as a compensatory response to hormonogenesis impairment. The incidence of MNG is dependent on sex (female:male ratio 5:1) and several reports have documented a genetic basis for the disease. Last year we mapped a MNG locus to chromosome Xp22 in a region containing the peroxiredoxin IV (Prx-IV) gene. Since Prx-IV is involved in the removal of H2O2 in thyroid cells, we hypothesize that mutations in Prx-IV gene are involved in pathogenesis of MNG.

Methods

Four individuals (2 affected, 2 unrelated unaffected) were sequenced using automated methods. All individuals were originated from the original three-generation Italian family described in previous studies. A Sou

SUBMITTER: Giardina E 

PROVIDER: S-EPMC117784 | biostudies-literature | 2002 Jul

REPOSITORIES: biostudies-literature