1989 Fiscal Year Final Research Report Summary
Analysis of myotonic dystrophy gene using a cDNA for human prolidase.
| Project/Area Number |
63571085
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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 |
Human genetics
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| Research Institution | Kumamoto University |
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Principal Investigator |
ENDO Fumio Kumamoto University Medical School University Hospital Department of Pediatrics Lecturer, 医学部附属病院, 講師 (00176801)
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| Project Period (FY) |
1988 – 1989
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| Keywords | prolidase / myotonic dystrophy / cDNA / gene / chromosome / gene mapping / RFLP / プロリダ-ゼ欠損症 |
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| Research Abstract |
Prolidase (peptidase D) is a ubiquitous enzyme which splits depeptides with a prolyl residue in the carboxy-terminal position. Polymorphisms of prolidase have been studies by gel electrophoresis, and a tight linkage of the polymorphisms and the myotonic dystrophy trait has been demonstrated. A cDNA probe for prolidase has been expected to be useful for genetic analysis of myotonic dystrophy.
I isolated cDNA clones from human liver and placental cDNA libraries and deduced the primary structure of the enzyme. The gene has been mapped to the short arm of chromosome 19 (19 p13,2). Using the cDNA, I isolated DNA fragments from human prolidase gene and elucidated the structural organization of the gene. The size of the gene is more than 140 kb and has 15 exons.
I investigated RFLPs in the region of prolidase gene and performed the RFLP analysis of genes from families with myotonic dystrophy.
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