LINKAGE ANALYSIS OF UNKNOWN GENETIC DISEASES

• Project/Area Number: 08307019
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: NAGASAKI 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: ¥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)
• Keywords: LINKAGE 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.

Research Products

• [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
• [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
• [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
• [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
• [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)
• [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)
• [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)