Iolascon A, Miraglia del Giudice E, Camaschella C
Dipartimento di Pediatria, Clinica Pediatrica Ia, Università, Napoli, Italy.
Haematologica. 1992 Jan-Feb;77(1):60-72.
Hereditary spherocytosis and elliptocytosis are common genetic defects of the red blood cell membrane skeleton. In recent years rapid advances have been made in the knowledge of the protein structure and assembly of the cytoskeleton. Thanks to the wide use of protein analysis methods several alterations have been discovered in functionally important domains of the different cytoskeletal proteins in these diseases. The cloning of cDNA for the majority of the cytoskeletal proteins allows us to begin elucidating some of these defects at the DNA level. This paper will review the effects of recent advances upon: cytoskeleton structure and assembly; molecular pathology of spherocytosis, elliptocytosis and pyropoikilocytosis.
遗传性球形红细胞增多症和椭圆形红细胞增多症是常见的红细胞膜骨架遗传缺陷。近年来，在细胞骨架蛋白质结构和组装的知识方面取得了迅速进展。由于蛋白质分析方法的广泛应用，在这些疾病中不同细胞骨架蛋白质的功能重要结构域发现了几种改变。大多数细胞骨架蛋白质的cDNA克隆使我们能够在DNA水平上开始阐明其中一些缺陷。本文将综述近期进展对以下方面的影响：细胞骨架结构和组装；球形红细胞增多症、椭圆形红细胞增多症和热异形红细胞增多症的分子病理学。
