The relationship between amelogenesis imperfecta and ameloblastin/amelogenin genes, and the gene diagnosis
| Project/Area Number |
13672147
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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 |
矯正・小児・社会系歯学
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| Research Institution | Osaka University |
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Principal Investigator |
SHINTANI Seikou Osaka University Graduate School of Dentistry. Associate Professor, 大学院・歯学研究科, 助教授 (90273698)
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| Co-Investigator(Kenkyū-buntansha) |
FUJIWARA Taku Nagasaki University Graduate School of Btomedical Science, Professor, 大学院・医歯薬学総合研究科, 教授 (00228975)
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| Project Period (FY) |
2001 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| Budget Amount *help |
¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2002: ¥1,000,000 (Direct Cost: ¥1,000,000)
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| Keywords | ameJogenesisimperfecta / ameloblastin / amelogenin / gene / polymorphism / Asian / アジア人 / 遺伝性疾患 |
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| Research Abstract |
Amelogenesis imperfecta (AI) is a group of inherited disorders affecting enamel formation that are characterized by clinical and genetic heterogeneity. It is genetically classified into two forms, X-linked caused by the mutated amelogenin gene and antosomal. To date, none of the gene underlying autosomal AI has been identified except only a few types resulted from mutations of the gene encoding enamelin although they are much more prevalent. We have recently cloned the human ameloblastin gene. It is a nonamelogenin protein located on human chromosome 4q21 as a single copy gene and closely linked to the enamelin gene. Hence, the ameloblastin gene is also considered to be a candidate responsible for autosomal AI, and it is necessary to know the relationship between AI and ameloblastin genes and to establish the criteria for the gene diagnosis. As the first step, we investigate the polymorphisms of the ameloblastin gene hi Asian subjects who do not show signs of AI in order to use as comparative points in the evaluation on the genes of AI patients. The ameloblastin genes of 23 Asian subjects (19 Japanese, 2 Chinese, 1 Sri Lankan and 1 Thai) were screened by polymerase chain reaction and DNA sequencing using genomic DNA. As the results, we detected six synonymous substitutions, four nonsynonymous substitutions and sequential three nucleotides deletions causing the missing of an amino acid residue in the translated region. Other substitutions and deletions were also detected in the 3'untranslated region and introns. Our findings provide useful information for evaluating if the ameloblastin gene is related to autosomal AI in Asian population. However, no pathogenic mutation in the ameloblastin and amelogenin genes of AI patients has not been detected yet
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Report
(3 results)
Research Products
(3 results)
