【摘要】 本文报道了在我国四川、湖北和江西省发现的三个β链慢速异常血红蛋白家系的分析结果。三个家系中共有七名成员为异常血红蛋白基因的杂合子,按电泳迁移率可鉴定为G组异常血红蛋白。三名先证者的异常血红蛋白相对含量分别为27.0%,32.3%和36.5%。血红蛋白变型的结构分析,包括珠蛋白肽链的分离,氨基乙基化β链的酶解和指纹分析,以及异常肽段的氨基酸组成和顺序测定,证实其β链第22位谷氨酸被甘氨酸替代,证明它是血红蛋白G Taipei(β22(B4)Glu→Gly)。血红蛋白G Taipei是分布于中国黄河南北诸省的一种异常血红蛋白,迄今仅在中国人中发现。虽然这种异常血红蛋白病并不引起临床症状,但对于研究这种基因突变的发生,以及它的地理分布都是有意义的。本文还讨论了DABITC/PITC双偶合法在测定血红蛋白异常肽段氨基酸顺序中的应用,认为这种微量顺序分析技术具有经济、快速和准确的优点,值得推广应用。更多还原

【Abstract】 This paper presents the results of a study of 3 families with a slow β chainvariant found in Szechuan, Hubei and Jiangxi Provinces of China. Seven membersof these 3 families are all heterozygous for the abnormal hemoglobin gene. Accordingto its electrophoretic mobility, the abnormal hemoglobin was identified as G type hemoglobin. The amount of abnormal hemoglobin of these 3 propositi are 27.0%,32.3% and 36.5% respectively. The structural analyses of the variant (including globin chain separation, trypticdigestion of the aminoethylated β chain and finger-printing of the tryptic digest, aswell as amino acid composition and sequence analyses of the abnormal peptide) indicatedthat its β 22 glutamic acid is replaced by glycine, and hence it is named Hb G Taipei(β 22 (B4) Glu→Gly). Hb G Taipei distributed over the provinces along both sides of Huanghe (YellowRiver), China. They were found only in Chinese. Although these patients gaveno clinical symptoms, the study is significant to understanding of the occurrence ofmutation and it’s geographical distribution. The application of the DABITC/PITC double-coupling method to the determi-nation of the amino acid sequence of abnormal peptides is discussed. It seems to usthat this micro-sequencing method has the advantage of being economical, rapid andaccurate. It is therefore worthy of wider application.更多还原