1994 Fiscal Year Final Research Report Summary
Gene analysis of insuiln receptor and glucokinase in patients with non-insulin dependent diabetes mellitus
| Project/Area Number |
04671466
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
内分泌・代謝学
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| Research Institution | University of Yamanashi Medical School |
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Principal Investigator |
TAWATA Masato University of Yamanashi Medical School, 医学部, 講師 (40109187)
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| Co-Investigator(Kenkyū-buntansha) |
INOUE Masaharu University of Yamanashi Medical School, 医学部, 助手 (10262651)
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| Project Period (FY) |
1992 – 1994
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| Keywords | NIDDM / insulin receptor / glucokinase / PCR-SSCP analysis / mutation / RCR-RF-SSCP analysis |
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| Research Abstract |
A) We analyzed insulin receptor gene and glucokinase gene in 70 late-onset type 2 diabetic patients and 50 healthy control subjects by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis.
1) Concerning glucokinase gene we found 4 kinds of mutations in 6 cases in diabetc patients. However 3 kinds of mutations were located in intron areas, and another one was an innocent mutation of exon 4. So, none of the mutations was expected to cause qualitative changes in glucokinase. On the other hand, we found no mutations in heathy control subjects. (2 papers have been published)
2) Concerning promoter regions of glocokinase gene, we found 4 types of polymorphism in diabetic patients and 3 types of polymorphism in healthy control subjects, three of them were in common. It seems that promoter regions of glucokinase have polymorphism, however, we still weed time if these polymorphism are related to the development of diabetes mellitus (paper in preparation).
3) Conserning insulin receptor gene analysis, we still need time for screening.
B) During the course of our investigation, we devised a new screening method and named it as PCR-restriction fragment (RF)-SSCP analysis. This method enables us to screen up to 42 k base pairs in one analysis, which is 20 to 100 times more efficient than conventional PCR-SSCP analysis. We believe that this method will be a powerfull procedure for screening of genome mutations in the future (paper has been submitted)
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