| Project/Area Number |
12470206
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Hematology
|
|---|
| Research Institution | Kawasaki College of Allied Health Professions (2001)
Kawasaki Medical School (2000) |
|---|
Principal Investigator |
YAWATA Yoshihito Kawasaki College of Allied Health Professions, Department of Case Work, Professor, 介護福祉科, 教授 (70069011)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
WADA Hideho Kawasaki Medical School Department of Internal Medicine (Hematology), Assistant Professor, 医学部, 講師 (70191830)
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)
賀来 万由美 川崎医科大学, 医学部, 助手 (20319940)
|
|---|
| Project Period (FY) |
2000 – 2001
|
| Project Status |
Completed (Fiscal Year 2001)
|
| Budget Amount *help |
¥8,700,000 (Direct Cost: ¥8,700,000)
Fiscal Year 2001: ¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2000: ¥5,300,000 (Direct Cost: ¥5,300,000)
|
|---|
| Keywords | red cell membrane proteins / Control of nege expression / Molecular electron microsopy / Spectrin / Band 3 / Protein 4.2 / Hereditary spherocytosis / Gene methylation / 赤血球膜異常症 / 膜蛋白質 / アンキリン / 遺伝子の発現調節 / 赤芽球分化 / プロテイン4.2 |
|---|
| Research Abstract |
(I)Genotypic and phenotypic studies on red cell membrane disorders in the Japanese population : In the second year (2001 - 2002), studies on red cell membrane disorders were further extended following the first year of this project (2000 - 2001). The subjects were 64 cases from 31 independent kindred ; 16 cases of 13 kindred in hereditary spherocytosis(HS). Three cases of two kindred in hereditary elliptocytosis (HE). Two cases of two kindred in total deficiency of protein 4.2(P4.2), two cases of one kindred of hereditary stomatocylosis, and other cases under investigation. Total number of cases studied has reached to 1078 cases of 636 kindred since 1974.
(II)Gene analysis in Japanese HS : We identified 12.mutations of band 3(B3) gene (EPB3) ; three frameshift mutations one splicing mutation, and eight missense mutations, 19 mutations of ankyrin (Ank) gene CANK. D : nine frameshift mutations, four nonsense mutations, and six splicing mutations, and three missense mutations of protein 4.2 (P4.2) gene (ELB42). Except for two mutations in EPB3, all the mutations were specific for the Japanese population.
(III)State of methylation of the red cell membrane protein genes : mfmn. P49, FT Three red cell membrane protein genes were selected for this study : B3(EPB3), P4.2CELB42), and B -spectrin (SFTB). In SPTB, many CpG sites were present as one of house-keeping genes and absolutely unmethylated. In ELB42, CpG sites were unmethylated in the erythroid precursors in the established cell line CUT-7), although they were methylated in mature erythroid cells. In EPB3, sites E and G were substantially hypomethylated in spite of reasonably methylated CpG sites at other locations.
|
