2006 Fiscal Year Final Research Report Summary

Molecular epidemiolojial study on maple syrup urine disease in Philippine.

Research Project

Project/Area Number	16406031
Research Category	Grant-in-Aid for Scientific Research (B)
Allocation Type	Single-year Grants
Section	海外学術
Research Field	Pediatrics
Research Institution	Kobe University
Principal Investigator	MATSUO Masafumi kobe University, Graduate School of Medicine, protessor, 大学院医学系研究科, 教授 (10157266)
Co-Investigator(Kenkyū-buntansha)	NISHIO Hisahide kobe University, Graduate School of Medicine, professor, 大学院医学系研究科, 教授 (80189258) TAKESHIMA Yasuhiro kobe University, Graduate School of Medicine, Associate professor, 大学院医学系研究科, 助教授 (40281141) KOSAKI Kenjiro Keio University, School of Medicine, Associate Professor, 医学部, 助教授 (30234743)
Project Period (FY)	2004 – 2006
Keywords	Philippine / maple syrup urine disease / E2 gene / neonate
Research Abstract	In the Phillipines maple syrup urine disease(MSUD) is frequently identified and is supposed to be one of the most important cause of neonatal death. In this study identification of MSUD has been conducted in the metro Manila partly by neonatal screening. A unique deletion mutation was found to be one of the common mutation and incidence of the carrier was estimated one in every 100 people. To fascilitate mutation detection DHPLC system that analyze 4 genes at one time was established. By using this system another novel and common mutation was identified.

(2 results)