1993 Fiscal Year Final Research Report Summary
MOLECULAR GENETIC ANALYSIS OF CHRONIC GRANULOMATOUS DISEASE.
| Project/Area Number |
04404046
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| Research Category |
Grant-in-Aid for General Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | HOKKAIDO UNIVERSITY |
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Principal Investigator |
MATSUMOTO Shuzo HOKKAIDO UNIVERSITY, SCHOOL OF MEDICINE ; PROFESSOR, 医学部, 教授 (80000933)
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| Co-Investigator(Kenkyū-buntansha) |
ISHIKAWA Yorikazu HOKKAIDO UNIVERSITY, MEDICAL HOSPITAL ; ASSISTANT PROFESSOR, 医学部・附属病院, 助手 (40159710)
KAJII Naofumi HOKKAIDO UNIVERSITY, SCHOOL OF MEDICINE ; ASSISTANT PROFESSOR, 医学部, 助手 (20194730)
SAKIYAMA Yukio HOKKAIDO UNIVERSITY, MEDICAL HOSPITAL ; LECTURER, 医学部・附属病院, 講師 (80133734)
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| Project Period (FY) |
1992 – 1993
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| Keywords | CHRONIC GRANULOMATOUS DISEASE / MOLECULAR GENETIC ANALYSIS |
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| Research Abstract |
We have investigated molecular genetic analysis in patients with chronic granulomatous disease (CGD) during 1992-1993. We had totally 21 patients from 20 different families to study, in which we could determine 17 patients from 16 families as an X-linked type CGD.We have shown that 4 patients revealed to have abnormal restriction length patterns on Southern blot analysis using the CYBB cDNA as a probe (Pediatr Res 31 : 516-519, 1992). The abnormal patterns were different from one another, which suggested genetic heterogeneity in X-CGD.We further studied to find the mutations of the CYBB gene in 7 patients with X-CGD (Eur J Pediatr 152 : 469-472, 1993 ; Eur J Haematol in press ; submitted for publication). The mutations found were quite various, which were consistent with the results of Southern blot analysis. We applied these results to the diagnosis of the carrier state in the patients' sisters. The results clearly demonstrated that three sisters were carriers of the disease, and one was not a carrier.
We made EBV lymphoblastoid cell lines from the patients and healthy controls. Using the cell lines, we established the system to detect superoxide production in vitro by chemiluminescence (Submitted for publication). This system would be useful for the gene transduction studies to restore the phagocyte function of the CGD patients.
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