1995 Fiscal Year Final Research Report Summary
Establishment of decision supporting system for genetic abnormalities in laboratory medicine.
| Project/Area Number |
05454583
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Laboratory medicine
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| Research Institution | Hamamatsu University, School of Medicine. |
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Principal Investigator |
KANNO Takashi Hamamatsu University, School of Medicine Laboratory Medicine Professor, 医学部, 教授 (70051406)
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| Co-Investigator(Kenkyū-buntansha) |
YONEKAWA Osamu Hamamatsu University Clinical Laboratories Assistant, 医学部附属病院, 助手 (90158527)
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| Project Period (FY) |
1993 – 1995
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| Keywords | Lactate dehydrogenase / Butyrylcholinesterase / Enzyme deficiencies / Genetic mutation / Laboratory Medicine. |
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| Research Abstract |
The detection of non symptomatic but high risk genetic abnormalities is one of the most important task for laboratory physicians. These abnormalities were sometimes picked up from observation of laboratory data in details. However, systematic rules for the detection of these abnormalities have not been established today. In this study, we established several algorithm to detect these genetic mutations from routine laboratory data. The detection system for plasma butyrylcholinesterase (Bcho) abnormalities effectively began to work. The system extracted more than 40 cases of genetic abnormalities of Bcho, including newly found 3 different types of genetic mutation employing PCRSSCP methods. L3301 and G365R mutation are relatively popular mutations in Japanese population and the frequency of K variant is as same as that in European population. The detection rule for the lactate dehydrogenase subunits abnormalities were not so effective but precise observation of laboratory data made it possible to detect the genetic abnormalities of LD subunits. Four different mutation site were elucidated by genomic analysis.
Finally we summarized the heterogeneities of genetic mutation of LD subunits and Bcho. Laboratory data of the patients with these abnormalities and mutation site of these patients were entry into our laboratory files of Hamamatsu University Hospital Information System and will be opened for scientific network to support laboratory physicians.
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