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成人中胎儿血红蛋白变体Hb F-马耳他-I的检测与定量分析。

Detection and quantitation of the fetal hemoglobin variant Hb F-Malta-I in adults.

作者信息

Altay G, Garver F, Bannister W H, Grech J L, Felice A, Huisman T H

出版信息

Biochem Genet. 1977 Oct;15(9-10):915-23. doi: 10.1007/BF00483988.

Abstract

A variant of fetal hemoglobin (Hb F-Malta-I) has been detected and quantitated in adult blood with a sensitive radioimmunoassay employing monospecific antisera. The concentration of Hb-F-Malta-I was 0.002-0.05%, with an average value of 0.011%. The ratio of Hb F-Malta-I/Hb F in adults was about 4.8%, compared to a ratio of about 27% in the newborn. Since the F-Malta-I variant is a product of a mutated Ggamma locus, which is one of the nonallelic structural genes directing the gamma chain synthesis, its presence in blood of adults shows that the synthesis of this gene is not completely suppressed after birth, as was previously suggested.

摘要

采用单特异性抗血清的灵敏放射免疫分析法已在成人血液中检测并定量了一种胎儿血红蛋白变体(Hb F - 马耳他 - I)。Hb - F - 马耳他 - I的浓度为0.002% - 0.05%,平均值为0.011%。成人中Hb F - 马耳他 - I/Hb F的比例约为4.8%,而新生儿中的比例约为27%。由于F - 马耳他 - I变体是突变的Gγ基因座的产物,该基因座是指导γ链合成的非等位结构基因之一,其在成人血液中的存在表明该基因的合成在出生后并未如先前推测的那样被完全抑制。

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