• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to project page

1996 Fiscal Year Final Research Report Summary

Rapid Detection of Known Mutations and Its Application to Carrie Testing

Research Project

Project/Area Number 06557046
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section試験
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

NARISAWA Kuniaki  Tohoku University, School of Medicine Professor, 医学部, 教授 (90004647)

Co-Investigator(Kenkyū-buntansha) KURE Shigeo  Tohoku University, School of Medicine Assistant Professor, 医学部, 助手 (10205221)
MATSUBARA Yoichi  Tohoku University, School of Medicine Associate Professor, 医学部, 助教授 (00209602)
Project Period (FY) 1994 – 1996
KeywordsCloning / Mutation / Allele Specific PCR / Multiplex ASPCR / Holocarboxylase Synthetase Deficiency / GSD / PKU / Metylmalonic Acidemia
Research Abstract

Present study carried out the following projects ;
1. Cloning of holocarboxylase synthetase (HCS) gene
Deficiency of HCS causes biotin-responsive multiple carboxylase. We have choned the human HCScDNA,which shows homology to BirA and maps to chromosome 21q22.1.
2. Mutation studies from various genetic disorders :
1) Mutation analysis in 6 Japanese patients revealed the misssense mutation of T997C,G1935A and one base deletion (G1067). These mutations together account for about 83% of Japanese HCS alleles. 2) Mutations of GSD patients ; R83H,P257L,R170X,g727t and IVS 1nt-a, together account for 98% of Japanese GSD mutant alleles.
The g727t splicing mutation was the most common mutation among the Japanese patients. 3) Mutaions of PKU patients ; R413P,IVS-4nt-1, R111X,Y204C,R243Q,R252W,R241C,R278I and IVS-9, account for 67% of Japanese PKU mutant alleles. 4) Mutaions of PKU patients ; R243Q,R413P,IVS-4, R365X,R111X,R261Q,Y204C,account for 61% of Chinese PKU mutant alleles. 5) Mutations of Japanese methylmalonic acidemia ; G425T and 769DELTACA.6) Mutations of Japanese CPT II deficient Patients ; F352C,V368I and M647V.7) Mutation of Japanese familial ALS ; H46R.
3. Development of multiplex allele specific PCR ; We have applied ASPCR methodology to the detection of mutations in PAH gene. Single ASPCR tests have been developed for 12 mutations found in Japan and China. ASPCR reactions for 3 or 4 mutaions have been multiplexed. The two multiplex tests will detect the presence of the R111X,R261Q and Y204C mutations and the R243Q,R413P,IVS 4nt-1 and Y356X mutations, respectively.

  • Research Products

    (8 results)

All Other

All Publications (8 results)

  • [Publications] Suzuki,Y.et al.: "Enzymatic diagnosis of holocarboxylase synthetase deficiency using apocarboxy1 carrier protein as a substrate." Clinica Chemica Acta. 251. 41-52 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Aoki,Y.et al.: "Characterization of mutant holocarboxylase synthetase(HCS):a Km was not elevated in a patient with HCS deficiency." Pediatric Research. (in press). (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Suzuki,Y.et al.: "Purification and properties of bovine and human holocarboxylase synthetase." Methods in Enzymology. 279(in press). (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Ikeda,H.et al.: "Molecular analysis of dihydropteridine reductase deficiency:identification of two novel mutations in Japanese patients." Human Genetics. (in press). (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Suzuki.Y.et al: "Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrler protein as a substrate." Clinica Chemica Acta. 251. 41-52 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Aoki.Y.et al: "Characterization of mutant holocarboxylase synthetase (HCS) : a Km was not elevated in a patient with HCS deficiency." Pedlatric Research. (in press). (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Suzuki.Y.et al: "Purification and properties of bovine and human holocarboxylase synthetase." Methods in Enzymology. 279. (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ikeda.H.et al: "Molecular analysis of dehydropteridine reductase deficiency : identification of two novel mutations in Japanese patients." Human Genetics. (in press). (1997)

    • Description
      「研究成果報告書概要(欧文)」より

URL: 

Published: 1999-03-09  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi