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

Emiliano Giardina, Francesca Capon, M. Rosaria D'Apice, Francesca Amati, Franco Arturi, Sebastiano Filetti, Emanuela Bonifazi, Sabina Pucci, Chiara Conte, Giuseppe Novelli

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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 Southern blot analysis using a Prx-IV full-length cDNA as a probe was performed in order to exclude genomic rearrangements and/or intronic mutations. In addition a RT-PCR of PRX-IV was performed in order to investigate expression alterations. Results: No causative mutations were found. Two adjacent nucleotide substitutions were detected within introns 1 and 4. These changes were also detected in unaffected individuals, suggesting that they were innocuous polymorphisms. No gross genomic rearrangements and/or restriction fragment alterations were observed on Southern analysis. Finally, using RT-PCR from tissue-specific RNA, no differences of PRX-IV expression-levels were detected between affected and unaffected samples. Conclusions: Based on sequence and genomic analysis, Prx-IV is very unlikely to be the MNG2 gene.

Original languageEnglish
Article number5
JournalBMC Medical Genetics
Publication statusPublished - Jul 23 2002

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)


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