Prchal J T, Morley B J, Yoon S H, Coetzer T L, Palek J, Conboy J G, Kan Y W
Department of Opthalmology, University of Alabama, Birmingham 35294.
Proc Natl Acad Sci U S A. 1987 Nov;84(21):7468-72. doi: 10.1073/pnas.84.21.7468.
Spectrin is an important structural component of the membrane skeleton that underlies and supports the erythrocyte plasma membrane. It is composed of nonidentical alpha (Mr 240,000) and beta (Mr 220,000) subunits, each of which contains multiple homologous 106-amino acid segments. We report here the isolation and characterization of a human erythroid-specific beta-spectrin cDNA clone that encodes parts of the beta-9 through beta-12 repeat segments. This cDNA was used as a hybridization probe to assign the beta-spectrin gene to human chromosome 14 and to begin molecular analysis of the gene and its mRNA transcripts. RNA transfer blot analysis showed that the reticulocyte beta-spectrin mRNA is 7.8 kilobases in length. Southern blot analysis of genomic DNA revealed the presence of restriction fragment length polymorphisms (RFLPs) within the beta-spectrin gene locus. The isolation of human spectrin cDNA probes and the identification of closely linked RFLPs will facilitate analysis of mutant spectrin genes causing congenital hemolytic anemias associated with quantitative and qualitative spectrin abnormalities.
血影蛋白是膜骨架的重要结构成分,位于红细胞质膜下方并为其提供支撑。它由不同的α亚基(分子量240,000)和β亚基(分子量220,000)组成,每个亚基都包含多个同源的106个氨基酸的片段。我们在此报告了一个人类红系特异性β-血影蛋白cDNA克隆的分离和鉴定,该克隆编码β-9至β-12重复片段的部分序列。这个cDNA被用作杂交探针,将β-血影蛋白基因定位到人类14号染色体上,并开始对该基因及其mRNA转录本进行分子分析。RNA转移印迹分析表明,网织红细胞β-血影蛋白mRNA长度为7.8千碱基。基因组DNA的Southern印迹分析显示,β-血影蛋白基因位点内存在限制性片段长度多态性(RFLP)。人类血影蛋白cDNA探针的分离以及紧密连锁的RFLP的鉴定将有助于分析导致先天性溶血性贫血的突变血影蛋白基因,这些贫血与血影蛋白的数量和质量异常有关。