2007 Fiscal Year Final Research Report Summary
Establishment of diagnostic system and study of epidemiology of primary immunodeficiency diseases in East Asia
| Project/Area Number |
18591185
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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 |
Pediatrics
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| Research Institution | University of Toyama |
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Principal Investigator |
KANEGANE Hirokazu University of Toyama, Department of Pediatrics, Assistant Professor (00293324)
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| Project Period (FY) |
2006 – 2007
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| Keywords | East Asia / Primary immunodeficiency / X-linked agammaglobulinemia / Flow cytometry / Genetic analysis |
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| Research Abstract |
We collaborated with Dr. Xiaochuan Wang in Fudan University, Shanghai, China, and Dr. Eun-Kyeong Jo in Chungnam National University, Daejon, Korea for this study. We previously identified a novel mutation in intron 1 position +5 (G→T) of BTK gene in a Japanese patient with X-linked agammaglobulinemia (XLA). The reporter constructs containing mutations were made, and the reporter activities ware measured by a luciferase assay. The mutant constructs were demonstrated to have reduced transcriptional activity. Positions +5 and +6 in intron 1 of the BTK gene are critical for transcriptional activity, and defects in these regions cause XLA (Shin D-M, et. Al.. Pediatr Int, in press).
Some of primary immunodeficiency diseases (PID) show various and atypical phenotypes, whereas similar phenotypes are caused by various kinds of genes. Thus genetic analysis has become important for a definite diagnosis of PID. There have more than 120 causative genes for PID, and it is time-consuming and labor-intensive to perform genetic analysis of PID. In collaboration with Riken Center for Allergy and Immunology and Kazusa DNA Research Institute, we have established a diagnostic system to analyze previous known genes for PID intensively. A database for registration of PID patients (PIDJ= http://pidj.rcai.riken.jp/medical.html) has also be established. In the future, the PIDJ would be handled all over the Asia, and would be linked with other databases in the Western countries.
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