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Study on gene responsible for mesomelic dysplasia identified in Thailand

Research Project

Project/Area Number 10041197
Research Category

Grant-in-Aid for Scientific Research (A).

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionKobe University

Principal Investigator

MATSUO Masafumi  Kobe University, School of Medicine, Professor, 医学部, 教授 (10157266)

Co-Investigator(Kenkyū-buntansha) ISHIDA Takafuni  Tokyo University, Associate Professor, 大学院・理学系研究科, 助教授 (20184533)
HUKUSHIMA Yoshimitu  Shinshu University, Professor, 医学部, 教授 (70273084)
NIIKAWA Norio  Nagasaki University, Professor, 医学部, 教授 (00111170)
NISHIYAMA Kaoru  Kobe University, School of Medicine, Professor, 医学部, 教授 (00150061)
SHIRAKAWA Taku  Kobe University, School of Medicine, Associate Professor, 医学部, 助教授 (30171044)
Project Period (FY) 1998 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥8,500,000 (Direct Cost: ¥8,500,000)
Fiscal Year 1999: ¥3,900,000 (Direct Cost: ¥3,900,000)
Fiscal Year 1998: ¥4,600,000 (Direct Cost: ¥4,600,000)
Keywordsbone disease / linkage analysis / mesomelic dysplasia / Thailand / クローニング / 責任遺伝子 / タイ
Research Abstract

Dr.Kantaputra in Chinag Mai, Thailand, identified on big family showing a new type of mesomelic dysplasia. In this study we tried to clone the responsible for this type of mesomelic displasia. Out of 15 patients in this family, 9 volunteered to give blood sample for DNA analysis and 13 normal also did. Linkage study by analyzing microsatellite on the whole genome localized the loci on 2q24-32. Candidate gene analysis is now undergoing to identify mutation on the gene.
In addition we are currently negotiating to do linkage analysis on other bone diseases.

Report

(3 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • Research Products

    (28 results)

All Other

All Publications (28 results)

  • [Publications] Fujimoto, M., Kantaputra, P.N., Ikegawa, S., Fukushima, Y., Sonta, S., Matsuo, M., Ishida, T., Matsumoto, T., Kondo, S., Tomita, H., Deng, H.X., D'Urso, M., Rinaldi, M.M., Ventruto, V., Takagi, T., Nakamura, Y., and Niikawa, N.: "The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32"J. Hum. Genet.. 43. 32-36 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Lee, M.J., Nishino, H., Nagai, T., Okamoto, N., Yuki, T., and Sumino, K.: "Molecular genetic analysis of the Prader-Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome 15q11-q13"Clin. Chim. Acta. 271. 89-96 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ishida, T., Suzuki, J., Duangchan, P., and Settheetham-Ishida, W.: "Preliminary report on the short stature of Southeast Asian forest dwellers, the Manni in southern Thailand : lack of an adolescent spurt in plasma IGF-I concentration"Southeast Asian J. Trop. Med. Public Health. 29. 62-65 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Silao, C.L., Shirakawa, T., Nishiyama, K., Padilla, C., and Matsuo, M.: "Molecular basis of glucose-6-phosphate dehydrogenase deficiency among"Filipinos Pediatr. Int.. 41. 138-141 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Laosombat, V., Dissaneevate, S., Peerapittayamongkol, C., and Matsuo, M.: "Neonatal hyperbilirubinemia associated with Southeast Asian ovalocytosis"Am. J. Hematol.. 60. 136-139 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kantaputra, P.N. Gorlin, R.J., Ukarapol, N., Unachak, K., and Sudasna, J.: "Robinew (fetal face) syndrome : report of a boy with dominant type and an infant with recessive type"Am. J. Med. Genet.. 84. 1-7 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Fujimoto,M, Kantaputra,PN, Ikegawa,S, Fukushima,Y, Sonta,S, Matsuo,M, Ishida,T, Matsumoto,T, Kondo,S, Tomita,H, Deng,HX, D'Urso,M, Rinaldi,MM, Ventruto,V, Takagi,T, Nakamura,Y and Niikawa,N.: "The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32"J Hum Genet. 43. 32-36 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Lee,MJ, Nishio,H, Nagai,T, Okamoto,N, Yuki,T and Sumino,K.: "Molecular genetic analysis of the Prader-Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome 15q11-q13"Clin Chim Acta. 271. 89-96 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ikegawa,S, Ohsahi,H, Nishimura,G, Kim,KC, Sannohe,A, Kimizuka,M, Fukushima,Y, Nagai,T and Nakamura,Y: "Novel and recurrent COMP(cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia"Hum Genet. 103. 633-638 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Nishimura,G and Nagai,T.: "A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation : a new syndrome?"J Hum Genet. 43. 65-68 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ikegawa,S, Nishimura,G, Nagai,T, Hasegawa,T, Ohashi,H and Nakamura,Y.: "Mutation of the type X collagen gene (COL10Al) causes spondylometaphyseal dysplasia"Am J Hum Genet. 63. 1659-1662 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kimura,M, Shimizu,Y, Settheetham-Ishida,W, Soemantri,A, Tiwawech,D, Romphruk,A, Duangchan,P and Ishida,T.: "Twenty-seven base pair deletion in erythrocyte band 3 protein gene responsible for Southeast Asian ovalocytosis is not common among"Southeast Asians Hum Biol. 70. 993-1000 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ishida,T, Suzuki,J, Duangchan,P and Settheetham-Ishida,W.: "Preliminary report on the short stature of Southeast Asian forest dwellers, the Manni, in southern Thailand : lack of an adolescent spurt in plasma IGF-I concentration"Southeast Asian J Trop Med Public Health. 29. 62-65 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Silao,CL, Shirakawa,T, Nishiyama,K, Padilla,C and Matsuo,M.: "Molecular basis of glucose-6-phosphate dehydrogenase deficiency among"Filipinos Pediatr Int. 41. 138-141 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Laosombat,V, Dissaneevate,S, Peerapittayamongkol,C and Matsuo,M.: "Neonatal hyperbilirubinemia associated with Southeast Asian ovalocytosis"Am J Hematol. 60. 136-139 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kosho,T, Muroya,K, Nagai,T, Fujimoto,M, Yokoya,S, Sakamoto,H, Hirano,T, Terasaki,H, Ohashi,H, Nishimura,G, Sato,S, Matsuo,N and Ogata,T.: "Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX : implications for the development of Turner syndrome"J Clin Endocrinol Metab. 84. 4613-4621 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Nishimura,G, Ikegawa,S, Saga,T, Nagai,T, Aya,M and Kawano,T.: "Metaphyseal anadysplasia : evidence of genetic heterogeneity"Am J Med Genet. 82. 43-48 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kantaputra,PN, Gorlin,RJ, Ukarapol,N, Unachak,K and Sudasna,J.: "Robinow (fetal face) syndrome : report of a boy with dominant type and an infant with recessive type"Am J Med Genet. 84. 1-7 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Simizu,Y, Ao,H, Soemantri,A, Tiwawech,D, Settheetham-Ishida,W, Kayame,OW, Kimura,M, Nishioka,T and Ishida,T.: "Sero-and molecular-typing of duffy blood group in Southeast Asians and Oceanians ; demontration of cryptic genotypes by the PCR-zRELP study"Human Biology. 72 : 3, (in press). (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Silao,CL,Shirakawa,T,Nishiyama,K,Padilla,C and Matsuo,M.: "Molecular basis of glucose-6-phosphate dehydrogenase deficiency among"Filipinos Pediatr Int. 41. 138-141 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Laosombat,V,Dissaneevate,S,Peerapittayamongkol,C and Matsuo,M.: "Neonatal hyperbilirubinemia associated with Southeast Asian ovalocytosis"Am J Hematol. 60. 136-139 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Kosho,T,Muroya,K,Nagai,T,Fujimoto,M,Yokoya,S,Sakamoto,H,Hirano,T,Terasaki,H,Ohashi,H,Nishimura,G,Sato,S,Matsuo,N and Ogata,T.: "Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome"J Clin Endocrinol Metab. 84. 4613-4621 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Nishimura,G,Ikegawa,S,Saga,T,Nagai,T,Aya,M and Kawano,T.: "Metaphyseal anadysplasia: evidence of genetic heterogeneity"Am J Med Genet. 82. 43-48 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Kantaputra,PN,Gorlin,RJ,Ukarapol,N,Unachak,K and Sudasna,J.: "Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type"Am J Med Genet. 84. 1-7 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Simizu,Y,Ao,H,Soemantri,A,Tiwawech,D,Settheetham-Ishida,W,Kayame,OW,Kimura,M,Nishioka,T and Ishida,T.: "Sero-and molecular-typing of duffy blood group in Southest Asians and Oceanians; demontration of cryptic genotypes by the PCR-zRELP study"Human Biology. 72(in press). (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Shiga,N.Matsuo,M.Yokoyama,M.Yokota,Y.: "Study on mutations affecting the nuscle promoter/first exon of the dystrophin gene in 92 Japanese dilated cardiomyopathy patients." Am J Med Genet.79. 226-227 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Surono,A.Takeshima,Y.Wibawa,T.Ikezawa,M.Nonaka,I.Matsuo,M.: "Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing." Hum Mol Genet.8. 493-500 (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] Chen,D.Takeshima,Y.Ishikawa,Y.Ishikawa,Y.Minami,R.Matsuo,M.: "A novel deletion of the dystrophin S-promoter region co-segregating with mental retardation." Neurology. (in press.). (1999)

    • Related Report
      1998 Annual Research Report

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Published: 1998-04-01   Modified: 2016-04-21  

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