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Studies on molecular abnormalities of spectrin and cytoskeleton in red cell membrane disorders

红细胞膜疾病中血影蛋白和细胞骨架的分子异常研究

基本信息

批准号：
62570555
负责人：
YAWATA Yoshihito
金额：
$ 1.28万
依托单位：
Kawasaki Medical School
依托单位国家：
日本
项目类别：
Grant-in-Aid for General Scientific Research (C)
财政年份：
1987
资助国家：
日本
起止时间：
1987 至 1988
项目状态：
已结题

项目摘要

Red cell membrane disorders (315 cases) were studied in the standpoint of cytoskeletal abnormalities, especially on the following topics: (I) Deficiency of red cell membrane protein band 4.2: Band 4.2 deficiency was characterized by (1) ovalostomatocytosis with severe uncompensated hemolysis, (2) complete absence of band 4.2 on SDS-PAGE with no defect of other protein bands, (3) increased Na influx (2.15 mmoles/1 RBC/hour in case 1 and 1.78 in case2(N:1.29 0.14), (4) moderately decreased red cell deformability in intact red cells examined by ektacytometry, (5) immunoblot studies revealed the presence of abnormal bands in this protein. (II) Hematological and membrane characteristics in 33 patients with hereditary stomatocytosis (HSt): Hematological and membrane characteristics were reviewed in 33 patients of hst studied at our institution. the type of the disease was categorized as based on na influx: HST with markedly increased Na influx (Type 1: >5 mmoles/1 RBC/hr), HSt with moderately increased Na influx (Type 2: 1.5-5), and HSt with not increased Na influx (Type 3: 1-1.5), compared to normal control (1.29 0.14). The extent of anemia and hemolytic jaundice was moderate in these 3 types. In Type 1 (n=7), n markedly increased Na influx was characteristic, and in Type 2 (n=15) Na efflux was moderately enhanced, contrary to normal membrane transport in type 3 (n=10). (III) Red cell membrane disoredrs studied by the end of 1988 were 315 cases as total, including 102 cases of hereditary spherocytosis, 49 cases of hereditary elliptocytosis (HE), 33 cases of hereditary stomatocytosis, 28 cases of membrane lipid abnormalties and others. In HE, a case with a molecuar defect of alpha-spectrin, such as HE[Sp alpha^<I/74>], was detected among 49 cases of a common type of HE.

从细胞骨架异常的角度对红细胞膜疾病（315例）进行了研究，特别是以下主题：（I）红细胞膜蛋白条带4.2缺陷：条带4.2缺陷的特点是（1）卵形口细胞增多症伴严重失代偿性溶血，（2）SDS-PAGE上条带4.2完全缺失，无其他蛋白条带缺陷，（3）增加 Na流入（病例1为2.15毫摩尔/1红细胞/小时，病例2为1.78（N：1.29 0.14），（4）通过旋转细胞计数法检查完整红细胞中红细胞变形能力适度降低，（5）免疫印迹研究显示该蛋白质中存在异常条带。（II）33例遗传性口红细胞增多症患者的血液学和细胞膜特征 (HSt)：对我们机构研究的 33 名 hst 患者的血液学和膜特征进行了回顾。根据Na流入量将疾病类型分类为：与正常对照相比，Na流入量显着增加的HST（1型：>5毫摩尔/1 RBC/小时）、Na流入量中度增加的HST（2型：1.5-5）和Na流入量不增加的HST（3型：1-1.5）（1.29 0.14）。这3种类型的贫血和溶血性黄疸程度均为中度。在 1 型 (n=7) 中，Na 内流显着增加是特征，在 2 型 (n=15) 中，Na 外流适度增强，这与 3 型 (n=10) 中的正常膜转运相反。（三）截至1988年底，共研究红细胞膜病变315例，其中：遗传性球形红细胞增多症102例，遗传性椭圆形红细胞增多症（HE）49例，遗传性口形红细胞增多症33例，膜脂异常28例等。在HE中，在49例普通型HE中检测到一例存在α血影蛋白分子缺陷的病例，例如HE[Sp α^<I/74>]。