Identification of novel responsible genes for familial adenomatous polyposis
| Project/Area Number |
14570476
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Gastroenterology
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| Research Institution | Kyushu University |
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Principal Investigator |
IIDA Mitsuo Kyushu University, Graduate School of Medical Sciences, Professor, 大学院・医学研究院, 教授 (00127961)
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| Co-Investigator(Kenkyū-buntansha) |
MATSUMOTO Takayuki Kyushu University, Graduate School of Medical Sciences, Research Associate, 大学院・医学研究院, 助手 (10278955)
ESAKI Motohiro Kyushu University, Graduate School of Medical Sciences, Research Associate, 大学院・医学研究院, 助手 (50335957)
YADA Shinichiro Kyushu University, Graduate School of Medical Sciences, Research Associate, 大学院・医学研究院, 助手 (00346800)
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| Project Period (FY) |
2002 – 2004
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| Project Status |
Completed (Fiscal Year 2004)
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| Budget Amount *help |
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2004: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2003: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2002: ¥1,400,000 (Direct Cost: ¥1,400,000)
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| Keywords | familial adenomatous polyposis / APC gene / phospholipase A2 gene / MYH gene / MUTHY遺伝子 / 疾患修飾遺伝子 |
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| Research Abstract |
We analyzed germline mutations of phospholipase (Pla2g2a) gene and MUTYH (MYH) gene in patients with familial adenomatous polyposis(FAP) by means of PCR-SSCP and direct sequence. Possible genotype-phenotype correlation was also investigated. Among 59 patients from 45 families with FAP, codon 32 in exon 3 of Pla2g2a gene was the most frequently mutated. Fundic gland polyposis was more frequent, and ampullary adenoma, gastic adenoma and osteoma were less frequent in patients with positive Pla2g2a mutation than those without. A logistic regression analysis revealed fundic gland polyposis to be dependent on Helicobacter pylori infection and gastric and ampullary adenomas to be dependent on Pla2g2a mutation. There were five missence mutations in MYH gene, among which a mutation in exon 12(H324Q) was the most frequent. However, there were no differences in genotype when patients were divided accodring to the mutation of MYH gene. There was a patient with bialleic mutations with G272Q and A359V. There was another patient with compound heterogenic mutations in P18L and G25S. These two patients were free from APC gene mutations. These findings suggest that Pla2g2a gene is one of modifier genes in FAP, and that bialleic mutation of MYH gene is responsible for FAP without APC gene mutation.
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Report
(4 results)
Research Products
(17 results)
