| Co-Investigator(Kenkyū-buntansha) |
DOERFLER Walter Universitat zu Koln, Institut fur Genetik, Professor, 遺伝学研究所, 教授
WADA Hideho Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (70191830)
KANZAKI Akio Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (40148698)
SUGIHARA Takashi Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (60140505)
YAMADA Osamu Kawasaki Medical School, Medicine, Associate Professor, 医学部, 助教授 (50104790)
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| Research Abstract |
(I) The state of methylation on the genes of red cell membrane proteins :
The state of methylation was studied at the promoter region of the genes assigned to human red cell membrane proteins (beta-spectrin, band 3, and protein 4.2) by the bisulfite method (Zeschnigk M et al.1997). In normal condition, the 13 sites of 5'-CpG-3' on the genes of band 3 (B3) and the 7 CpG sites of protein 4.2 (P4.2) were heavily methylated in the peripheral mononuclear cells. In contrast, the 40 sites of the beta-spectrin gene were totally unmethylated. In addition, in total deficiency of P4.2, the 4 CpG sites of the B3 gene were specifically unmethylated (Yawata Y,et al : Blood 90 : 8b, 1997 ; Wada H,et al : Exp Hematol, in press, 1998).
(II) Phenotypic abnormalities of human red cell membrane disorders :
Red cell membrane proteins and their related genes were analyzed in 92 cases of the 37 kindreds of hereditary spherocytosis and in 36 cases of normal subjects. In these patients, 3 frameshift mutations, 5 missense mutations, and 7 polymorphism were identified on the B3 gene, contrary to 12 silent mutations on the ankyrin gene (Kanzaki A,et al : Brit J Haematol 99 : 522-530,1997 ; Kanzaki A,et al : Blood 90 : 6b-7b, 1997). Markedly deranged cytoskeletal network was detected in the red cell membrane in situ with allele 4.1 (-) Madrid by immuno-electron microscopy (Yawata A,et al : Blood 90 : 2471-2481,1997).
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