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Sequence variants of the Axin gene in hepatoblastoma by Jiangyong Miao; Takeshi Kusafuka; Yuko Udatsu; Akira Okada is a Medicine article available to read on EtoBox.

What is Sequence variants of the Axin gene in hepatoblastoma about?

The Wnt signaling pathway plays critical roles in the embryonic development and tumorigenesis. As a part of the Wnt signal transduction, the function of Axin complex is inhibited, leading to accumulation of beta-catenin. In hepatoblastomas, loss of APC (adenomatous polyposis coli) function or activation of beta-catenin that are the other two components involving in Wnt signaling has been demonstrated. Because hepatoblastoma shows immunohistochemical positivity of beta-catenin more often than its mutation frequency, we analyzed the Axin gene as a candidate to lead beta-catenin accumulation in hepatoblastoma. The coding region of the Axin gene was examined by PCR-SSCP using 24 sets of the primers in 22 hepatoblastomas and some paired normal tissues. Samples revealing aberrant band patterns were subjected to direct sequencing analysis. We identified totally eight variants in the exons and four intronic nucleotide substitutions. Seven variants in the exons were silent mutations, however, the remaining variant at codon 95 (ACG-->ATG) found in one hepatoblastoma predicted to result in an amino acid change from threonine to methionine. The paired peripheral blood DNAs from this patient al

Who reads Sequence variants of the Axin gene in hepatoblastoma?

Author

Jiangyong Miao; Takeshi Kusafuka; Yuko Udatsu; Akira Okada

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Elsevier BV; Wiley (ISSN 1386-6346)

Published

2003

Language

EN

Field

Medicine (Health Sciences)