1994 Fiscal Year Annual Research Report

分子病態から見たわが国の赤血球膜異常症の研究

Research Project

Project/Area Number	06671120
Research Institution	Kawasaki Medical School
Principal Investigator	八幡義人川崎医科大学, 医学部, 教授 (70069011)
Co-Investigator(Kenkyū-buntansha)	井上孝文川崎医科大学, 医学部, 助手 (60203238) 和田秀穂川崎医科大学, 医学部, 講師 (70191830) 神崎暁郎川崎医科大学, 医学部, 講師 (40148698) 杉原尚川崎医科大学, 医学部, 講師 (60140505) 山田治川崎医科大学, 医学部, 助教授 (50104790)
Keywords	赤血球膜 / 溶血性貧血 / band4.2 / band3 / 膜間粒子 / 遺伝性球状赤血球症 / 遺伝性楕円赤血球症 / spectrin
Research Abstract	本年度にあげ得た研究業績は次のごとくである。 1.わが国の赤血球膜異常症の疫学的特徴:自験610症例について検索し、遺伝性球状赤血球症(HS)が最多で、遺伝性楕円赤血球症、遺伝性有口赤血球症がつぎ、赤血球膜脂質異常症は数%であった(Int J Hemato 60:23-38,1994)。 2.わが国のHSの分子病態の特徴:諸外国とは異なり、わが国のHSの病因はband3/band4.2異常症が主体で、spectrin/ankyrin異常症は稀であることを見いだした(Int J Hematol 60:227-238,1994)。 3.Band4.2異常症の研究:1 Band4.2欠損症自験34症例の特徴を解析し、わが国ではcodon142Ala→Thr点変異症例(Nippon type)が主体であることを招待依頼論文として報告した(Biochim Biophys Acta 1204:131-148,1994およびAm J Med Sci 307:190-203,1994)。2)Band4.2欠損症(Nippon type)における赤血球膜病態の分子電顕学的、物理化学的研究を行い、band4.2完全欠損によるband3の物性障害を見いだした(Int J Hematol 59:157-175,1994およびPathophysiology 1(Suppl):235,1994)。3)Band4.2の遺伝子発現と膜形態形成を正常およびband4.2欠損症赤血球について報告した(Blood 84:5a,1994)。4)Band4.2欠損症の新しい遺伝子異常2家系を発見した(Blood84:7a,1994およびInt.J Hematol 印刷中,1995)。 4.わが国のspectrin異常症の研究:1)β-Spectrin Le Puy in Yamagataを発見(Eur J Haematol 52:92-98,1994)、この症例の細胞骨格蛋白網の異常を詳述した(Virchows Archiv 425:297-304,1994)。2)α-Spectrin(α^< LELY>)に関する国際共同研究の一環として日本人の遺伝子特性を検索した(Br J Haematol印刷中,1995)。

Research Products

(20 results)

All Other

All Publications (20 results)

[Publications] Yawata,Y.: "Invited review:Red cell membrane protein band 4.2:Phenotypic,genetic,and electron microscopic aspects." Biochim.Biophys.Acta:Protein Structure and Molecular Enzymology Reviews. 1204. 131-148 (1994)
[Publications] Yawata,Y.: "Invited review:Band 4.2 abnormalities in human red cells." Am.J.Med.Sci.307. 190-203 (1994)
[Publications] Yawata,A.: "A surface replica.method:A useful tool for studies of the cyto-skeletal network in red cell membranes of normal subjects and patients with a β-spectrin mutant (spectrin Le Puy:B220/214)。" Virchows Arch.425. 297-304 (1994)
[Publications] Marechal,J.: "Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family:Ultrastructural aspect of the red cell skeletor." Eur.J.Haematol.52. 92-98 (1994)
[Publications] Inoue,T.: "Electron microscopic and physicobiochemical studies on disorga-nization of cytoskeletal network and integral protein (band3) in red cells of band4.2 deficiency with a mutation (codon142 GCT→ACT)" Int.J.Hematol.59. 157-175 (1994)
[Publications] Yawata,Y.: "Red cell membrane disorders in the Japanese population:Clinical,biochemical,electron microscopic,and genetic studies." Int.J.Hematol.60. 23-38 (1994)
[Publications] Inoue,T.: "Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 aS the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population." Int.J.Hematol.60. 227-238 (1994)
[Publications] Sugihara,T.: "Deformation of swollen erythrocytes provides a model of sickling induced leak pathways,including a novel bromide sensitive component." Blood. 83. 2684-2691 (1994)
[Publications] Yawata,Y.: "Expression of band 4.2 and its isoforms in human erytnroid precursors." Blood. 84. 5a (1994)
[Publications] Yawata,Y.: "Two novel mutations in red cell band 4.2 deficiency:Homozygous 175 GAT→TAT,and compound heterozygous 142 GCT→ACT with 317 CGC→TGC." Blood. 84. 7a (1994)
[Publications] Yawata,Y.: "Abnormalities of red cell band 4.2 on its anchoring functions." Pathophysiol.1(Suppl). 235 (1994)
[Publications] Kanzaki,A.: "Band 4.2 Komatsu:523 GAT→TAT(175 Asp→Tyr)in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2,hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network." Int.J.Hematol.in press. (1995)
[Publications] Marechal,J.: "Ethnic distribution of allele α^<LELY>,a low expression allele red cell spectrin α-gene." Br.J.Haematol.in press. (1995)
[Publications] 八幡義人: "赤血球膜異常症." 血液・腫瘍科. 28. 1-16 (1994)
[Publications] 神崎暁郎: "赤血球膜骨格蛋白の発現と分化." 血液・腫瘍科. 30. 27-38 (1994)
[Publications] 八幡義人: "分子遺伝学、蛋白生化学から見た遺伝性球状赤血球症の病因." Currents in Hematoimmunology. 11(印刷中). (1995)
[Publications] 八幡義人: "遺伝子診断と遺伝子治療(村松正実、平井久丸編)" 東京化学同人(東京), 7 (1994)
[Publications] 八幡義人: "血液病学第2版(三輪史朗、柴田昭、青木延雄編)" 文光堂(東京), 38 (1995)
[Publications] 神崎暁郎: "Annual Review血液1995" 中外医学社(東京), 19 (1995)
[Publications] 八幡義人: "遺伝子診断実践ガイド(中井利昭他編)" 中外医学社(東京), 10 (1995)

1994 Fiscal Year Annual Research Report

分子病態から見たわが国の赤血球膜異常症の研究

Principal Investigator

八幡 義人 川崎医科大学, 医学部, 教授 (70069011)

Research Products

[Publications] Yawata,Y.: "Invited review:Red cell membrane protein band 4.2:Phenotypic,genetic,and electron microscopic aspects." Biochim.Biophys.Acta:Protein Structure and Molecular Enzymology Reviews. 1204. 131-148 (1994)

[Publications] Yawata,Y.: "Invited review:Band 4.2 abnormalities in human red cells." Am.J.Med.Sci.307. 190-203 (1994)

[Publications] Yawata,A.: "A surface replica.method:A useful tool for studies of the cyto-skeletal network in red cell membranes of normal subjects and patients with a β-spectrin mutant (spectrin Le Puy:B220/214)。" Virchows Arch.425. 297-304 (1994)

[Publications] Marechal,J.: "Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family:Ultrastructural aspect of the red cell skeletor." Eur.J.Haematol.52. 92-98 (1994)

[Publications] Inoue,T.: "Electron microscopic and physicobiochemical studies on disorga-nization of cytoskeletal network and integral protein (band3) in red cells of band4.2 deficiency with a mutation (codon142 GCT→ACT)" Int.J.Hematol.59. 157-175 (1994)

[Publications] Yawata,Y.: "Red cell membrane disorders in the Japanese population:Clinical,biochemical,electron microscopic,and genetic studies." Int.J.Hematol.60. 23-38 (1994)

[Publications] Inoue,T.: "Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 aS the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population." Int.J.Hematol.60. 227-238 (1994)

[Publications] Sugihara,T.: "Deformation of swollen erythrocytes provides a model of sickling induced leak pathways,including a novel bromide sensitive component." Blood. 83. 2684-2691 (1994)

[Publications] Yawata,Y.: "Expression of band 4.2 and its isoforms in human erytnroid precursors." Blood. 84. 5a (1994)

[Publications] Yawata,Y.: "Two novel mutations in red cell band 4.2 deficiency:Homozygous 175 GAT→TAT,and compound heterozygous 142 GCT→ACT with 317 CGC→TGC." Blood. 84. 7a (1994)

[Publications] Yawata,Y.: "Abnormalities of red cell band 4.2 on its anchoring functions." Pathophysiol.1(Suppl). 235 (1994)

[Publications] Kanzaki,A.: "Band 4.2 Komatsu:523 GAT→TAT(175 Asp→Tyr)in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2,hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network." Int.J.Hematol.in press. (1995)

[Publications] Marechal,J.: "Ethnic distribution of allele α^<LELY>,a low expression allele red cell spectrin α-gene." Br.J.Haematol.in press. (1995)

[Publications] 八幡義人: "赤血球膜異常症." 血液・腫瘍科. 28. 1-16 (1994)

[Publications] 神崎暁郎: "赤血球膜骨格蛋白の発現と分化." 血液・腫瘍科. 30. 27-38 (1994)

[Publications] 八幡義人: "分子遺伝学、蛋白生化学から見た遺伝性球状赤血球症の病因." Currents in Hematoimmunology. 11(印刷中). (1995)

[Publications] 八幡義人: "遺伝子診断と遺伝子治療(村松正実、平井久丸 編)" 東京化学同人(東京), 7 (1994)

[Publications] 八幡義人: "血液病学 第2版(三輪史朗、柴田昭、青木延雄 編)" 文光堂(東京), 38 (1995)

[Publications] 神崎暁郎: "Annual Review血液1995" 中外医学社(東京), 19 (1995)

[Publications] 八幡義人: "遺伝子診断実践ガイド(中井利昭 他 編)" 中外医学社(東京), 10 (1995)

八幡義人川崎医科大学, 医学部, 教授 (70069011)

[Publications] 八幡義人: "遺伝子診断と遺伝子治療(村松正実、平井久丸編)" 東京化学同人(東京), 7 (1994)

[Publications] 八幡義人: "血液病学第2版(三輪史朗、柴田昭、青木延雄編)" 文光堂(東京), 38 (1995)

[Publications] 八幡義人: "遺伝子診断実践ガイド(中井利昭他編)" 中外医学社(東京), 10 (1995)