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

  • Authors:
    • R Palmirotta
    • M Veri
    • M Curia
    • V Casale
    • P Fracasso
    • V Stigliano
    • F Guadagni
    • R MarianiCostantini
    • P Battista
    • A Cama
  • View Affiliations

  • Published online on: October 1, 1996     https://doi.org/10.3892/ijo.9.4.701
  • Pages: 701-703
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Abstract

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 TCC 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.

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October 1996
Volume 9 Issue 4

Print ISSN: 1019-6439
Online ISSN:1791-2423

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APA
Palmirotta, R., Veri, M., Curia, M., Casale, V., Fracasso, P., Stigliano, V. ... Cama, A. (1996). Novel allele of the hMLH1 gene bearing a TTC deletion in the 3' untranslated region. International Journal of Oncology, 9, 701-703. https://doi.org/10.3892/ijo.9.4.701
MLA
Palmirotta, R., Veri, M., Curia, M., Casale, V., Fracasso, P., Stigliano, V., Guadagni, F., MarianiCostantini, R., Battista, P., Cama, A."Novel allele of the hMLH1 gene bearing a TTC deletion in the 3' untranslated region". International Journal of Oncology 9.4 (1996): 701-703.
Chicago
Palmirotta, R., Veri, M., Curia, M., Casale, V., Fracasso, P., Stigliano, V., Guadagni, F., MarianiCostantini, R., Battista, P., Cama, A."Novel allele of the hMLH1 gene bearing a TTC deletion in the 3' untranslated region". International Journal of Oncology 9, no. 4 (1996): 701-703. https://doi.org/10.3892/ijo.9.4.701