Mass screening for ion channel gene abnormality in the patients with long QT syndrome diagnosed by Screening Program for Heart Disease
| Project/Area Number |
10670739
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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 | Kagoshima University |
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Principal Investigator |
NOMURA Yuichi Kagoshima University, Faculty of Medicine, Assistant Professor, 医学部・附属病院, 講師 (90237884)
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| Co-Investigator(Kenkyū-buntansha) |
NISHI Jun-ichiro Kagoshima University, Faculty of Medicine, Research Associate, 医学部, 助手 (40295241)
KONO Yukiharu Kagoshima University Hospital, Faculty of Medicine, Research Associate, 医学部・附属病院, 助手 (70291549)
YOSHINAGA Masao Kagoshima University, Faculty of Medicine, Associate Professor, 医学部, 助教授 (10145469)
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| Project Period (FY) |
1998 – 2001
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| Project Status |
Completed (Fiscal Year 2001)
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| Budget Amount *help |
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 2001: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2000: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1999: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1998: ¥1,000,000 (Direct Cost: ¥1,000,000)
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| Keywords | long QT / CFLP / gene abnormalities / 逆転写PCR / Kチャンネル / Naチャンネル |
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| Research Abstract |
Many students are diagnosed as having long QT interval using Screening Program for Heart Disease. If their ion channel gene abnormality(s) are determined, it will be helpful on their medication. Cleavase fragment length polymorphism analysis (CFLP) analysis expresses stable reproducibility and has the possibility of analyzing much longer DNA fragments than those possible by single-strand conformation polymorphism (SSCP), which is usually applied in gene analysis. We examined the possibility of ion channel gene mass screening using the CFLP analysis.
At first, CFLP analysis was performed in the study of a family with long QT syndrome. CFLP analysis showed a difference between normal genes and the patients' genes in the part be tween S4 and S5 of the KVLQT1 gene in terms of an increased density of a patient's band whose size was around 50 base. A heterozygous mutation (CCGTGG->CCATGG) was indicated using direct sequencing, and the mutation was confirmed by restriction fragment length polymorphism using the enzyme of Nco I. It was confirmed that one point heterozygous mutation in 835 base pair polymerase chain reaction product was detectable using CFLP analysis. It is suggested that CFLP analysis is a useful method for the screening of unknown mutation(s) in large genes.
CFLP analysis was applied in other two families with long QT syndrome or three patients with sporadic long QT interval. However, no abnormalities have been found.
Further examinations on other patients are necessary. Combination analysis using CFLP and direct sequencing for whole ion channel gene is starting.
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Report
(5 results)
Research Products
(3 results)
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[Publications] Nomura,Yuichi, Kamimura,Junko, Yoshinaga,Masao, Nishi,Jun-ichiro, Kono,Yukiharu, Miyata,Koichiro: "Cleavase fragment length polymorphism analysis in a family with long QT syndrome"Jpn J Ped Card Surg. 17 (1). 20-25 (2001)
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