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1979年迄今,在我国汉、壮和傣族中已发现多倒 HbE,还有1例蒙族 HbE。本文报道的这例 HbE,为我国瑶族发现的第一例,已经过一级结构分析确证。先证者女性,14岁,瑶族,湖南江华县人。家系调查,证明其母携者相同的异常 Hb,两人均属杂合子型。血液学检查,异丙醇试验阳性,保温12小时包涵体阳性。无临床症状。异常珠蛋白链的一级结构分析,显示其β链 N 端的第26位谷氨酸被赖氨酸所取代〔可表示如β26(B8)Glu→Lys〕。根据其β~xI 的指纹图,我们推测δ链可能混有少许β~E 链。
So far in 1979, HbE has been found to have fallen more than the Han, Zhuang and Dai peoples in our country, and another Mongolian HbE has been found. The case of HbE reported in this paper is the first case found in Yao nationality in China and has been confirmed by the primary structure analysis. Probate female, 14 years old, Yao, Hunan Jianghuasian. Pedigree investigation to prove that their mothers with the same abnormal Hb, both are heterozygous. Hematology, isopropanol test positive, incubated for 12 hours positive for inclusion bodies. No clinical symptoms. The primary structural analysis of the abnormal globin chain shows that glutamic acid at the 26th position of the N-terminus of the β chain is substituted with lysine (which may be expressed as β26 (B8) Glu → Lys). According to its β ~ xI fingerprints, we speculate that the δ chain may mix a little β ~ E chain.