Nute P E, Stamatoyannopoulos G, Hermodson M A, Roth D
J Clin Invest. 1974 Jan;53(1):320-8. doi: 10.1172/JCI107553.
Examination of 13 members of a Filipino family revealed that 6 had erythrocytosis inherited as a simple autosomal dominant trait. Application of several electrophoretic and chromatographic tests failed to reveal the presence of an abnormal hemoglobin in hemolysates from affected individuals. However, measurements of oxygen dissociation curves using whole bloods, dialyzed hemolysates, and 2,3-diphosphoglyceric acid-stripped hemolysates clearly showed that affected persons had an abnormal hemoglobin characterized by a high affinity for oxygen. Compositional analyses of all tryptic peptides from the beta-chains of the proband revealed a valyl-methionyl ambiguity in betaT12a. Blockage of lysyl residues and subsequent tryptic hydrolysis at arginyl residues permitted the isolation of fragments containing residues 105 through 146. Automatic sequence analysis of the fragments demonstrated the presence of both valine and methionine in nearly equal proportions at position beta109. This new hemoglobin variant is designated Hb San Diego (beta109(G11) Val-->Met).
对一个菲律宾家庭的13名成员进行检查发现，其中6人患有红细胞增多症，该病作为一种简单的常染色体显性性状遗传。应用多种电泳和色谱测试未能在患病个体的溶血产物中检测到异常血红蛋白的存在。然而，使用全血、透析后的溶血产物和去除2,3-二磷酸甘油酸的溶血产物测量氧解离曲线，结果清楚地表明，患病个体有一种对氧具有高亲和力的异常血红蛋白。对先证者β链的所有胰蛋白酶肽段进行成分分析，发现在βT12a中缬氨酸-甲硫氨酸存在模糊性。对赖氨酸残基进行封闭，随后在精氨酸残基处进行胰蛋白酶水解，从而分离出含有105至146位残基的片段。对这些片段进行自动序列分析表明，在β109位缬氨酸和甲硫氨酸的比例几乎相等。这种新的血红蛋白变体被命名为Hb圣地亚哥（β109(G11) Val→Met）。
