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Mass Screening Procedure for Mucopolysaccharidoses using urine specimens on paper

Research Project

Project/Area Number 03557044
Research Category

Grant-in-Aid for Developmental Scientific Research (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionGifu University

Principal Investigator

ORII Tadao  Gifu University. Pediatrics. professor, 医学部, 教授 (20045339)

Co-Investigator(Kenkyū-buntansha) SUKEGAWA Kazuko  Gifu University. Pediatrics. Instructor, 医学部, 助手 (60115409)
SUZUKI Yasuyuki  Gifu University. Pediatrics. Assistant Professor, 医学部・附属病院, 講師 (00163014)
YAMAGUCHI Seiji  Gifu University. Pediatrics. Assistant Professor, 医学部・附属病院, 講師 (60144044)
Project Period (FY) 1991 – 1993
Project Status Completed (Fiscal Year 1993)
Budget Amount *help
¥10,900,000 (Direct Cost: ¥10,900,000)
Fiscal Year 1993: ¥2,400,000 (Direct Cost: ¥2,400,000)
Fiscal Year 1992: ¥2,500,000 (Direct Cost: ¥2,500,000)
Fiscal Year 1991: ¥6,000,000 (Direct Cost: ¥6,000,000)
KeywordsInherited Metabolic Disease / Mucopolysaccharidosis / Mass Screening / DMB Method / Urinary Mucopolysaccharide / マススクリ-ニング
Research Abstract

We examined the direct quantitative method with 1,9-dimethylmethylene blue (DMB).
1. This method of quantifying excessive excretion of sulfated glycosaminoglycanes was suited to mass screening programs for mucopolysaccharidoses diseases.
2. It required only 12 ul of urine, and many speciments can be assayd in a short time.
3. Test results of the DMB method correlated with those of the CPC/carbazole-borate method.
4. A component in the diaper was highly reactive in the assay.
With this method, we anticipate that all newborns could be tested for MPS disease on a regular basis.

Report

(4 results)
  • 1993 Annual Research Report   Final Research Report Summary
  • 1992 Annual Research Report
  • 1991 Annual Research Report
  • Research Products

    (16 results)

All Other

All Publications (16 results)

  • [Publications] Masuno M,et al: "Mucopolysaccharidosis IVA:Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase(GALNS)Gene to Chronosome 168-24" Genomics. 16. 777-778 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Yamada Y.et al: "Mucopolysaccharidosis type II (Hunter disease):13 gene mutations in 52 Japanese patients and carrier detection in four families" Hum.Genet. 92. 110-114 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Nakashima Y et al: "Mucopolysaccharidosis IVA:Molecular Cloning of the Human N-acetylgalactosamine 6-Sulfate(GALNS)Gene and Analysis of the 5-Flanking Region" Genomics. (in press). (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] 戸松俊治 他: "細胞への遺伝子導入実験法" Connective Tissue. 24. 267-271 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 折居忠夫 他: "ムコ多糖症VII群(β-グルクロニダーゼ欠損症)" 日本臨牀. 51. 2330-2335 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Kazuko Sukegawa: "Intermediate form of mucopolysaccharidosis typeII(Huntev disease):A C1327 to T substitution in the iduronate sulfatase gene" Bochem.Bophys.Res.Comnurn.183. 809-813 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Seiji Fukuda: "Mucopslysaccharidosis type IV A:N-Acetylgalactosamine-6-sulfate sulfatase exonic point mutation in clasical Morguio and mild cases." J.Clin.Invest.90. 1049-1053 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Hiroyuki Okamoto: "Optimization of Electroporation for Transfection of Human Fibroblast cell Lines with Origin-Defective SU40DNA:Development of Human Transformed Fibroblast cell Lines with Mucopolysaccharidoses(I〜VII)" Cell Struct.Funct.17. 123-128 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Tatsuya Ogawa: "Molecular Basis of Mucopolysaccharidosis IVA:N-acetylgalacto samine-6-Sulfate sulfatase exonic point mutations" Connect.Tissue. 24. 177-178 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Yoshihiro Nakashima: "Molecular Basis of Mucopolysaccharidosis IVA at the Genomic Level." Connect.Tissue. 24. 179-180 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 折居 忠夫: "ムコ多糖症" 小児科診療. 55. 2320-2325 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Toshiya Sasaki: "Puritication and Partial Characterization of α-N-Acetyl-glucosamiuidase from Human Liver" J.Biochem.110. 842-846 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] Michiya Masue: "N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta:Purification and Charactevistics." J.Biochem.110. 965-970 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] Shunji Tomatsu: "Morquio Disease:Isolation,Characterization and Expression of Full-Length cDNA for Human N-Acetylgalactosamine-6-Sulfate Sulfatase." Biochem.Biophys.Res.Commun.181. 677-683 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] 祐川 和子: "ムコ多糖代謝異常症" 小児内科. 23. 1715-1719 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] Kazuko Sukegawa: "Intermediate Fonu of Mucopolysaceharidosis TypeII(Hunter Disease):A C^<1327> to T Substitution in the Iduronate Sulfatase Gene." Biochem.Biophys.Res.Commun. (1992)

    • Related Report
      1991 Annual Research Report

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Published: 1991-04-01   Modified: 2016-04-21  

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