Molecular genetic study on G6PD deficiency in Philippines
| Project/Area Number |
11691210
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| Research Category |
Grant-in-Aid for Scientific Research (B).
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| Allocation Type | Single-year Grants |
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| Section | 海外学術 |
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| Research Field |
Metabolomics
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| Research Institution | Kobe University |
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Principal Investigator |
NAKAMURA Hajime Kobe University, School of Medicine, Professor, 医学部, 教授 (40030978)
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| Co-Investigator(Kenkyū-buntansha) |
UETANI Yoshiyuki Kobe University, School of Medicine, Assistant Professor, 医学部, 助教授 (40168620)
NISHIYAMA Kaoru Kobe University, School of Medicine, Professor, 医学部, 教授 (00150061)
MATSUO Masafumi Kobe University, School of Medicine, Professor, 医学部, 教授 (10157266)
SHIRAKAWA Taku Kobe University, School of Medicine, Assistant Professor, 医学部, 助教授 (30171044)
TAKESHIMA Yasuhiro Kobe University, Hospital, Assistant, 医学部・附属病院, 助手 (40281141)
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| Project Period (FY) |
1999 – 2000
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| Project Status |
Completed (Fiscal Year 2000)
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| Budget Amount *help |
¥4,000,000 (Direct Cost: ¥4,000,000)
Fiscal Year 2000: ¥1,900,000 (Direct Cost: ¥1,900,000)
Fiscal Year 1999: ¥2,100,000 (Direct Cost: ¥2,100,000)
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| Keywords | G6PD deficienc / mutation / Philippines |
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| Research Abstract |
A method to screen G6PD deficiency was established by measuring enzyme activity in whole blood spotted on a filter paper. Screening of G6PD deficiency was conducted in peoples living in metro Manila area. Around 30,000 neonates were screened for G6PD deficiency and 3.6% of neonates were found to be G6PD deficiency. Although more than 300 different G6PD variants have been distinguished on the basis of biochemical parameters suggesting a vast genetic heterogeneity, only a small portion of this heterogeneity has been confirmed at the DNA.To facilitate clarification of molecular pathogenesis of G6PD deficiency, we have invented a new mutation analysis system named MPTP (Multiplex PCR with tandem primers). By MPTP a single nucleotide change on the G6PD gene can be detected by doing PCR within two days. We applied MPTP to detect mutations ofl2 different mutations and identified mutations in most of cases.
Some cases had no mutation identified by MPTP and the full length of the coding region of the G6PD gene was sequenced. As a result, a novel mutation of T198A was identified.
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Report
(3 results)
Research Products
(3 results)
