Cellular biochemistry and electron microscopy in hereditary red cell membrane disorders

最近两年（1995-1997年）的结果如下：遗传性球形红细胞增多症：(1)与西方国家相比，锚蛋白/谱蛋白异常在日本的发生率要低得多。(2) 50例HS患者中3带基因有4个突变，50例正常人和20例HS患者中有11个多态性和1个锚蛋白基因突变。(3) HS的一个性状携带8p2染色体异常。4.2条带：(1)检测到2个完全缺失4.2条带的新突变：(1)等位基因4.2 Komatsu （523GAT*TAT）和等位基因4.2 Shiga （317CGC*TGC）。(2)电镜观察到膜内颗粒和细胞骨架网络在完整带4.2缺陷处有明显的紊乱。(3) Band 4.2被证明与spectrins有直接结合。(4)从生物化学和分子生物学的角度研究了条带4.2重态长野的发病机制。3级：(1)完全3级缺乏症为世界首例。(2)报道了3带Fukuoka纯合子的表型特征。(3) 3带和糖蛋白A的联合缺乏是一种膜糖蛋白异常。(4)在冲绳3带中检测到4个新的3带基因突变。红细胞膜的形态发生：红系分化过程中膜蛋白的表达始于谱蛋白、糖蛋白和带3，其次是带4.1和锚蛋白，在分化的最后阶段完成带4.2的表达。遗传性椭圆细胞病：(1)在Natoya中发现了该基因缺陷。(2)电镜下观察到4.1全带缺陷（4.1 (-)Madrid等位基因）红细胞的膜内颗粒和细胞骨架网络明显紊乱。

The following results were obtained for the recent two years (1995-1997) :1. Hereditary spherocytosis :(1) Ankyrin/spectrin anomalies appeared to be much less frequent in Japan, compared with those in Western countries.(2) Four mutations in the band 3 gene in 50 HS patients and 11 polymorphism and one mutation in the ankyrin gene were detected in 50 normal subjects and 20 HS patients.(3) A trait of HS carried a chromosomal anomaly of 8p.2. Band 4.2 :(1) Two novel mutations with complete band 4.2 deficiency were detected : (1) allele 4.2 Komatsu (523GAT*TAT) and allele 4.2 Shiga (317CGC*TGC).(2) Marked derangements were observed on the intramembrane particles and the cytoskeletal network in the complete band 4.2 deficiencies by electron microscopy.(3) Band 4.2 was proved to have a direct binding to spectrins.(4) The pathogenesis of band 4.2 doublet Nagano was studied by biochemistry and molecular biology.3. Band 3 :(1) Complete band 3 deficiency was described as the first case in the world.(2) Phenotypic characteristics were reported in homozygotes of band 3 Fukuoka.(3) A combined deficiency of band 3 and glycophorin A was found as a membrane glycoprotein anomaly.(4) Four novel mutations of band 3 gene were detected in band 3 Okinawa.4. Morphogenesis of red cell membranes :It was shown that the expression of membrane proteins in erythroid differentiation was initiated in spectrins, glycophorins and band 3, followed by band 4.1 and ankyrin, and completed by the expression of band 4.2 at the last stage of the differentiation.5. Hereditary elliptocytosis :(1) The gene defect was identified in beta-spectrin Natoya.(2) Marked derangement of the intramembrane particles and the cytoskeletal network was observed by electron microscopy in red cells of the complete band 4.1 deficiency (allele 4.1 (-) Madrid).