Novel allele of the hMLH1 gene bearing a TTC deletion in the 3' untranslated region

Raffaele Palmirotta, Maria Concetta Veri, Maria Cristina Curia, Vincenzo Casale, Pierluigi Fracasso, Vittoria Stigliano, Fiorella Guadagni, Renato Mariani-Costantini, Pasquale Battista, Alessandro Cama

Research output: Contribution to journalArticlepeer-review


SSCP analysis of the hMLH1 gene in two kindreds affected by hereditary nonpolyposis colorectal cancer (HNPCC) revealed the presence of unique conformers in all patients affected by colorectal cancer. Sequence analysis of the corresponding region of the gene revealed a 3 base pairs deletion within a TTC tandem repeat (G TTC TTC T→G TTC T) beginning 29 base pairs downstream of the termination codon of the gene in the 3' untranslated region. This deletion causes the loss of an MboII restriction site. Analysis extended to 113 healthy unrelated individuals and 27 unrelated HNPCC patients demonstrated the occurrence of this novel variant of the hMLH1 gene at similar frequencies in unrelated HNPCC patients (3.7%) and in control individuals (2.2%). The allele bearing the TTC deletion appears to be expressed at levels comparable to those of the wild-type allele.

Original languageEnglish
Pages (from-to)701-703
Number of pages3
JournalInternational Journal of Oncology
Issue number4
Publication statusPublished - 1996


  • hMLH1 gene
  • novel allele

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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