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2001 Fiscal Year Final Research Report Summary

Prenatal Diagnosis of Ingenited Metabolic Disorders Using Maternal Blood

Research Project

Project/Area Number 11557061
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section展開研究
Research Field Pediatrics
Research InstitutionThe Jikei University Shool of Medicine

Principal Investigator

ETO Yoshikatsu  Jikei Univ.,Dept. of Pedatrics Prof., 医学部, 教授 (50056909)

Co-Investigator(Kenkyū-buntansha) IDA Hiroyuki  Jikei Univ.,Dept. of Pedatrics, assi prof., 医学部, 講師 (90167255)
OHNO Tsuya  Jikei Univ.,Dept. of Obstetrics and Gynecology prof., 医学部, 教授 (60147288)
TANAKA T  Jikei Univ.,Dept. of Microbiology(1) prof., 医学部, 教授 (50110929)
OKAMOTO Aikou  Jikei Univ.,Dept. of Obstetrics and Gynecology assi prof., 医学部, 講師 (20204026)
OHASHI Toya  Jikei Univ.,Dept. of Pedatrics, asso prof., 医学部, 助教授 (60160595)
Project Period (FY) 1999 – 2001
Keywordsmaternal blood / fetal blood / prenatal diagnosis / lectin method / chromosomal disorders / genetic disorder / Gaucher disease / Fabry disease
Research Abstract

Prenatal diagnosis by maternal blood is non-invasive manner for mother and fetus. Blood from 3-4 months pregnant mother contain fetal trophoblasts, 1 to 2-30, 000 mother cells. These nucleated erythrocytes exhibit surface antigens such as glycophorin A, CD-71, CD36, Y specific probe and hemoglobin F. Using these markers, we tried to isolate fetal fells using magnetic beads method, lectin method and fluorocytometer methods. We have detected fetal cells and applied to the DNA diagnosis of chromosomal aberrations such as Down syndrome, Aneuploidy syndrome and genetic diseases (Gaucher, Fabry disease)
(1) Isolation method of fetal cells from maternal blood :
Fctal nucleated cells were isolated from 20 ml pregnant mothers which we obtained informed consent. Using lectin column, magnetic beads column, and fluorocytometry methods, we could isolated fetal nucleated cells. Furthermore, using D18S474 microsatelite marker, we could demonstrated male fetal cells from maternal blood. Furthermore, usi … More ng cDNA micro array method, we tried to study mNA expression in fetal single cells. The results suggest we need more cells to demonstrate.
(2) Chromosomal disorders for DNA diagnosis by fetal cells We attempt to demonstrate to give a DNA diagnosis of Down syndrome and aneuploidy syndrome by maternal blood. In order to give a diagnosis these disorders, first we attempted to determine pathogenesis of Aneuploidy syndrome. Several data suggest that This disorder is caused by gene defect in spindle assembly checkpoints.
(3) Genetic disorders by DNA diagnosis by fetal cells :
We attempted to determine DNA diagnosis in Japanese patients with Gaucher and Fabry disease. We determined the common mutations in Japanese Gaucher disease as follows : L444P, 32%, F2 1 3 I, 17%, D409H, 5.2%, ecNcl, 4.2%. In other hand, Several mutations in Fabry disease from Japanese patients were follows ; L 1 6 H, A37Vm W209X, 342Q, IVS1-1, IVS5-2, IVS5-2, IVS6+1 and etc. These results could be applied for prenatal diagnosis by maternal blood. Less

  • Research Products

    (21 results)

All Other

All Publications (21 results)

  • [Publications] Ida H, Eto Y, et al.: "Effects of enzyme replacement therapy in 13 Japanese pediatric patients with Gaucher disease"Eur J Pediatr. 160. 21-25 (2001)

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  • [Publications] Yokoo T, Ohashi T, Eto Y, et al.: "Inflamed glomeruli-specific gene activation that uses recombinant adenovirus with the Cre/loxP system"J Am Soc Nephrol. 12(11). 2330-2337 (2001)

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  • [Publications] Yokoo T, Ohashi T, Eto Y, et al.: "Genetically modified bone marrow continuously supplies anti-inflammatory cells and suppresses・・・"Blood. 90(1). 57-64 (2001)

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  • [Publications] Watabe K, Ida H, Eto Y, et al.: "Establishment and characterization of immortalized Schwann cells from murine moderu of Nieman-Pick disease"J Peripheral Nervous System. 6. 85-94 (2001)

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      「研究成果報告書概要(和文)」より
  • [Publications] Tsuda M, Ida H, Eto, et al.: "A newly recognized missennse mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome"Eur J Pediatr. 160. 867 (2001)

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      「研究成果報告書概要(和文)」より
  • [Publications] Kimura T, Ohashi T, Eto Y, et al.: "The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial"Cancer. 92. 2561-2555 (2001)

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  • [Publications] Ida H, Rennert OM, Kobayashi M and Eto Y: "Effects of enzyme replacement therapy in 13 Japanese pediatric patients with Gaucher disease."Eur J Pediatr. 160. 21-25 (2001)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Yokoo T, Ohashi T, Utsunomiya Y, Shiba H, Shen JS, Hisada Y, Eto Y, Kawamura T, Hosoya T: "Inflamed glomeruli-specific gene activation that uses recombinant adenovirus with the Cre/loxP system."J Am Soc Nephrol.. 12(11). 2330-2337 (2001)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Yokoo T, Ohashi T, Utsunomiya Y, Shen JS, Hisada Y, Eto Y, Kawamura T, Hosoya T: "Genetically modified bone marrow continuously supplies anti-inflammatory cells and suppresses renal injury in mouse Goodpasture syndrome."Bloof. 98(1). 57-64 (2001)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Watabe K, Ida H, Tanaka J, Miyawaki S, Ohno K and Eto Y: "Establishment and cnaracterization of immortalized Schwann cells from murine model of Nieman-Pick disease C(spm/spm)"J Peripheral Nervous System. 6. 85-94 (2001)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Tsuda M, Kitasawa E, Ida H, Eto Y and Owada M: "A newly recognized missennse mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome."Eur J Pediatr. 160. 867-2001

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      「研究成果報告書概要(欧文)」より
  • [Publications] Kimura T, Suzuki H, Ohashi T, Asano Kouji, Kiyota H, Eto Y: "The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinornas."Cancer. 92. 2555-2561 (2001)

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  • [Publications] Shen J, Watabe K, Ohashi T, Eto Y: "intraventricular administration of recombinant adenovirus to neonatal twitcher muse leads to clinicopathological improvements."Gene Ther. 8(14). 1081-1087 (2001)

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  • [Publications] Sugama S, Kimura SA, Chen W, Kubota S, Seyama Y, Taira N, Eto Y: "Frontal lobe dementia with abnormal cholesterol metaboilsm and heterozygous mutation in sterol 27-hydroxylase gene(CYP27)"J Inherit Metab Dis. 24(3). 379-392 (2001)

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  • [Publications] Shiba H, Okamoto T, Futagawa Y, Ohashi T, Eto Y: "Efficient and cancer-selective gene transfer to hepatocellular carcinoma in a rat using adenovirus vector with iodized oil esters."Cancer Gene Ther.. 8(10). 713-718 (2001)

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  • [Publications] Watabe K, Sakamoto T, Ohashi T, Kawazoe Y, Oyanagi K, Takeshima T, Inoue K, Eto Y, Kim SU: "Adenoviral gene transfer of glial cell line-derived neurotrophic factor to injured adult motoneurons."Hum Cell. 14(1). 7-15 (2001)

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  • [Publications] Eto Y, Ohashi T: "Gene therapy/ cell therapy for lysosomal strange disease."J Inhert Metab Dis. 23(3). 293-298 (2000)

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  • [Publications] Ohashi T., Yokoo T., Ilizuka S., Kobayashi H., Sly W.S. and Eto Y:

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  • [Publications] Watabe K., Ohashi T., Sakamoto T., Kawazoe y., Takeshima T., Oyanagi K., Inoue K., Eto Y., and Kim S.U.: "Rescue of lesioned adult rat spinal motoneurons by adenoviral gene transfer of glial cell line-derived neurotrophic factor."Journal of Neuroscience Research. 60. 511-519 (2000)

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  • [Publications] Tsujino S., Kanazawa N., Ohashi T., Eto Y., Saito T., Kira J., Yamada T: "Three novel mutations (G27E, insAAC, R179X)in the ORNT1 gene of Japanese patients with HHH syndrome."Arch of Neurol. 147(5). 65-631 (2000)

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  • [Publications] Miyata I, Toyoda S and Eto Y: "Selective hypoaldosteronism with hupothyroidism in infancy."Clinical Endocrinology. 9(2). 55-62 (2000)

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Published: 2003-09-17  

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