Molecular Genetics of Hereditary Red Cell Membrane Disorders

本研究于1996学年获得以下结果：1.第三带异常：（1）在遗传性球形红细胞增多症冲绳家系中，除了等位基因冲绳的一个突变（G130 R：GGA* 阿加）外，还检测到三个突变（1）“K56 E：AAG*GAG“，（2）“P854 L：CCG*CTG“，（3）“G714 R：GGG * AGG "）。1996学年，在这一研究项目下取得了以下成果。复合突变诱导蛋白4.2完全缺失，带3部分缺失。采用分子生物学、生化分析和电镜技术研究了红菇的表型特征。（2）牛的完全带3缺乏症被报告为该类别中的首例。2.蛋白4.1（-）马德里完全缺乏时受损细胞骨架网络的分子电镜研究：如法国研究小组（Prof. Jean Delaunay）先前报道的，由于起始密码子（AUG）的突变，蛋白4.1在4.1（-）马德里中完全缺失。结果证明，细胞骨架网络显着扭曲和破坏的总缺乏蛋白4.1通过电子显微镜analysis.Other结果：其他新的情况下，红细胞膜疾病的检测，特别是蛋白4.2，和遗传性球形红细胞增多症。阐明了这些病例的表型和基因型。

The follwing results were obtained under this research project in the academic year of 1996.1.Band 3 abnormalities :(1)In the Okinawa family with hereditary spherocytosis, three mutations ("(1)"K56E : AAG*GAG, "(2)"P854L : CCG*CTG, "(3)"G714R : GGG*AGG) were detected on the allele Okinawa, in addition to a mutation (G130R : GGA*AGA) in the other allele. The following results were obtained under this research project in the academic year of 1996. The compound mutations induced a total absence of protein 4.2 with a partial deficiency of band 3. Phenotypic characteristics in the red were studied by molecular bioligy, biochemical analysis and electron microscopy.(2)Complete band 3 deficiency in cattle was reported as the first case in this category. The trait suffered from marked acidosis, retarded growth, and striking microspherocytosis.2.Molecular electron microscopic studies on the impaired cytoskeletal network in complete deficiency of protein 4.1 (4.1 (-) Madrid) :Protein 4.1 was totally missing in the 4.1 (-) Madrid due to the mutation at the initiation codon (AUG), as previously reported by the French group (Prof. Jean Delaunay). It was proven that the cytoskeletal network was markedly distorted and disrupted by the total absence of protein 4.1 by electron microscopic analysis.Other results :Other novel cases of red cell membrane disorders were detected, especially on protein 4.2, and hereditary spherocytosis. The phenotypes and genotypes were clarified on these cases.