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

LINKAGE ANALYSIS OF UNKNOWN GENETIC DISEASES

Research Project

Project/Area Number 08307019
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionNAGASAKI UNIVERSITY

Principal Investigator

NIIKAWA Norio  Nagasaki Univ., Sch.Med.Professor, 医学部, 教授 (00111170)

Co-Investigator(Kenkyū-buntansha) SHIDA Takafumi  Univ.Tokyo, Grad.Sch.Sci.Assoc.Professor, 理学研究科, 助教授 (20184533)
MATSUO Masafumi  Kobe Univ.Sch.Med.Professor, 医学部, 教授 (10157266)
SONTA Shinichi  Aichi Colony for Disabled Inst.Develop.Disturb.Chief Scientist, 発達障害研, 主任研究員 (00100165)
FUKUSHIMA Yoshimitsu  Shinshu Univ.Sch.Med.Professor, 医学部, 教授 (70273084)
IKEGAWA Shiro  Univ.Tokyo., Inst.Med.Sci.Instructor, 医科学研究所, 助手 (30272496)
松本 正  長崎大学, 医学部附属病院, 講師 (70190535)
Project Period (FY) 1996 – 1998
Project Status Completed (Fiscal Year 1998)
Budget Amount *help
¥32,500,000 (Direct Cost: ¥32,500,000)
Fiscal Year 1998: ¥11,000,000 (Direct Cost: ¥11,000,000)
Fiscal Year 1997: ¥10,000,000 (Direct Cost: ¥10,000,000)
Fiscal Year 1996: ¥11,500,000 (Direct Cost: ¥11,500,000)
KeywordsLINKAGE ANALYSIS / DISEASE LOCUS / MESOMELIC DYSPLASIA / ENGELMANN DISEASE / Paroxysmal kinetogenic choreoathetosis / FAMILIAL CATARACT / ATRIAL SPEPTAL DEFECT / POSITIONAL CLONING / 肢中部短縮型小人症
Research Abstract

Genetic linkage analysis was performed in the following three autosomal dominant disorders : (1) familial cataracts ; (2) Camurati-Engelmann disease ; and (3) paroxysmal kinesigenic chorcoathetosis (PKC). The familial cataract is a new type of cataract observed in a family where 10 members are affected, Engelmann disease was found in two families in which a total of 17 members are affected, and PKC is a disease observed in three unrelated families where a total of 24 members are affected. After obtaining "informed consent', DNA samples were collected from the family members. DNA was amplified by PCR for 450 microsatellite marker loci, in order to know genotypes of the loci and parent-child transmission patterns. As results, the familial cataract locus is linked to chromosome 20 at a 33.9-cM region with the maximum lod score (Zmax) of 3.61 (theta = 0.00), while the Engelmann disease locus maps to another chromosome at a 26.3-cM region (region B) with Zmax of 5.78 (theta = 0.00, p = 0.90), and the PKC locus is assigned to a 17.3-cM region (region C) with Zmax of 6.077 (theta = 0.00, p = 0.90). The chromosomal localizations in these disorders provides useful positional information for further positional cloning of the disease genes.

Report

(3 results)
  • 1998 Annual Research Report   Final Research Report Summary
  • 1997 Annual Research Report
  • Research Products

    (7 results)

All Other

All Publications (7 results)

  • [Publications] Fujimoto M,Kntaputra PN,Ikegawa S et al.: "The gene for mesomelic dysplasia Kantaputra type is mapped to 2q24-q32." Journal of Human Genetics. 43. 32-36 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yamada K,Tomita H,Yoshiura K et al.: "An Autosomal Dominant Posterior Polar Cataract Locus Maps to Human Chromosome 20." American Journal of Human Genetics. (in press). (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Fujimoto M, Kantaputra PN, Ikegawa S et al.: "The gene for mesomelic dysplasia Kantaputra type is mapped to 2q24-q32." Journal of Human Genetics. 43. 32-26 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yamada K, Tomita H, Yoshiura K et al.: "An autosomal dominant posterior polar cataract locus maps to human chromosome 20." American Journal of Human Genetics. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Fujimoto M,Kntaputra PN,Ikegawa S et al.: "The gene for mesomelic dysplasia Kantaputra type is mapped to 2q24-q32." Journal of Human Genetics. 43. 32-36 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Yamada K,Tomita H,Yoshiura K et al.: "An Autosomal Dominant Posterior Polar Cataract Locus Maps to Human Chromosome 20." American Journal of Human Genetics. (in press). (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] Fujimoto M,Kantaputra PN Ikegawa S,et al.: "The gene for mesomelic dysplasia Kantaputra type is mapped to 2q24-q32." Journal of Human Genetics. (in press). (1998)

    • Related Report
      1997 Annual Research Report

URL: 

Published: 1996-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi