The algorithm to determine the causative gene of the familial tumor represented by elastofibroma dorsi

2015 Fiscal Year Final Research Report

• Project/Area Number: 26670532
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: University of the Ryukyus
• Principal Investigator: UEZATO Hiroshi 琉球大学, 医学(系)研究科(研究院), 教授 (10137721)
• Co-Investigator(Kenkyū-buntansha): TAKAHASHI Kenzo 琉球大学, 大学院医学研究科, 准教授 (80291425)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 背部弾性線維腫 / 家族性腫瘍 / 琉球諸島 / 軟部腫瘍 / 良性腫瘍 / ヘテロ接合性の喪失

Outline of Final Research Achievements

We aimed to identify the anti-oncogene, which should be the causative gene of familial cases of elastofibroma dorsi. All gene variations were selected by the subtraction of genome mutations between the tumor tissues and the peripheral-blood genome of several elastofibroma dorsi cases. The target causative gene should have mutated in both peripheral blood genome and tumor cells in the different way. However, the genome variations of the people living in the Aguni Island, where elastofibroma dorsi occurs frequently, were very similar among cases, and lacking in diversity. By the procedure, in which we choose the genome variation of the usual existence coefficient of 1% or less, it became clear by making the whole Japanese's average genome as a standard genome, it could not narrow down easily. We are now looking for the putative causative gene by PCR amplification from previous many pathological paraffin fixed blocks.

Free Research Field

皮膚科学、皮膚腫瘍学