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1992 Fiscal Year Final Research Report Summary

Basic Genetic Studies Related to OPLL

Research Project

Project/Area Number 02454343
Research Category

Grant-in-Aid for General Scientific Research (B)

Allocation TypeSingle-year Grants
Research Field Orthopaedic surgery
Research InstitutionTokyo Medical and Dental University

Principal Investigator

FURUYA Kohtaro  Faculty of Medicine, Tokyo medical and Dental Univ. Professor, 医学部, 教授 (30013915)

Co-Investigator(Kenkyū-buntansha) FURUSHO Toshiyuki  Faculty of Health Sciences, Kyorin Univ. Professor, 保健学部, 教授 (80013910)
NAKAJIMA Hachiro  Faculty of Medicine, Tokyo medical and Dental Univ. Associate Professor, 医学部, 助教授 (30013882)
Project Period (FY) 1990 – 1992
KeywordsOPLL / Linkage Analysis / Blood Groops / Genetic Markers / Gene Locus / Chromosome / DNA-Diagnosis
Research Abstract

In an attempt to identity the gene locus for OPLL, and to develop the basis for diagnosis by DNA analysis, the linkage between the genes in OPLL cases and 16 genetic markers, from 7 blood groups 6 serum protein groups and 3 erythrocyte enzyme systems were studied. Eleven families were studied, with a total of 47 individuals who were examined by X-ray and for genetic markers. Nine of the families were studied over 2 generations, and one family over 3 generations. OPLL was confirmed over 2 generations in 2 families. There were no confirmed cases seen over 3 generations. Because of late onset of disease in the case of OPLL, the third generation was too young to express the disease. Linkage analysis of OPLL was therefore not possible. In diseases with late onset, a one-time examination would not appear to be adequate for confirmation of diseases' presence or absence. Repeated periodic examinations with 5 to 10 year intervals appear to be indicated. Results of chromosomal analysis showed no chromosomal aberrations significantly and directory related to OPLL onset or development.

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Published: 1994-03-24  

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