【摘要】 本文报告在中国大陆发现的10个快速异常血红蛋白家系的研究结果,这种异常血红蛋白的电泳迁移率属于K型,血红蛋白稳定性轻度降低,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113位（G15）的缬氨酸被谷氨酸替代,称为血红蛋白New York(α₂β₂^{（?）23（G15）Val→Glu}) 在10个家系的调查中共发现35例Hb New York患者,他们都没有临床症状。其中2例是Hb New York和α^O地中海贫血基因的双重杂合子,血红蛋白New York的含量达90％以上;其余患者都尾Hb New York杂合子,血红蛋白New York含量大约50％。从血红蛋白New York的地理分布可以看出,这种异常血红蛋白在我国南方发生频率较高,接近0.4％。Q##原图像不清晰更多还原

【Abstract】 This paper presents the results of a study of 10 families with a fast abnormal hemoglobin found in China Mainland. The abnormal hemoglobin, with slightly reduced stability, was identified as the K type hemoglobin according to its electrophoretie mobility. From the structure analyses of the variant, including globin chain separation, tryptic digestion of the aminoethylated β chain, fingerprinting of the tryptic digest, as well as amino acid composition and sequence analysis of the abnormal peptide, it was indicated that its β 113 [G15] valine was replaced by glutamic acid, and hence known as hemoglobin New York (α2β2113[G15]Val→Glu).In the 10 families studied, 35 individuals were found to be the Hb New York subjects, all healthy in appearance. Among them two subjects, with hemoglobin New York over 90%, were the double heterozygote for hemoglobin New York and β° thalassemia genes; the remainders were the heterozygote for the Hb New York gene only and had the abnormal hemoglobin about 50%. Prom the geographical distribution of Hb New York, it is clear that Hb New York occurs mostly in the southern parts of China, with a frequency of about 0.4‰.更多还原