Qualtieri A, Pasqua A, Bisconte M G, Le Pera M, Brancati C
Centro Studi della Microcitemia, Cosenza, Italy.
Br J Haematol. 1997 May;97(2):273-8. doi: 10.1046/j.1365-2141.1997.572703.x.
A Calabrian family (Southern Italy) with Sp alpha(I/74) hereditary elliptocytosis (HE) in the heterozygous state was studied. Sp alpha(I/74) HE is associated with asymptomatic elliptocytosis, a defect in spectrin dimer self association and an increase of the alpha(I/74) kD fragment from the alpha chain after partial tryptic digestion of spectrin. To identify the underlying molecular defect, we analysed exons V, W, X, Y, Z of the beta gene and exon 2 of the alpha gene by single-strand conformational polymorphism (SSCP) of the amplification products. Direct DNA sequencing of the mutant exon showed a C-->G substitution at position 6284 of the beta gene. The corresponding substitution at the protein level was Arg-->Pro in the 2064 position of the beta-spectrin chain.
对一个来自意大利南部卡拉布里亚地区的家族进行了研究，该家族处于杂合状态的Sp alpha(I/74)遗传性椭圆形红细胞增多症（HE）。Sp alpha(I/74) HE与无症状性椭圆形红细胞增多症、血影蛋白二聚体自我缔合缺陷以及血影蛋白经部分胰蛋白酶消化后α链的α(I/74) kD片段增加有关。为了确定潜在的分子缺陷，我们通过扩增产物的单链构象多态性（SSCP）分析了β基因的外显子V、W、X、Y、Z和α基因的外显子2。对突变外显子的直接DNA测序显示β基因第6284位存在C→G替换。在蛋白质水平上，相应的替换是β-血影蛋白链第2064位的Arg→Pro。
