Huisman T H, Kutlar F, Kutlar A, Wilson J B, Harris H F
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-3331.
Prog Clin Biol Res. 1987;251:507-17.
A new gamma chain of human fetal hemoglobin, the M gamma chain, has been detected by high performance liquid chromatography (HPLC). It is characterized by a Leu----Met replacement at position gamma 141; no other structural variations have been found. The M gamma chain has been observed in red cell lysates of subjects with a heterozygosity for one of many types of hereditary persistence of fetal hemoglobin (HPFH), in sickle cell anemia, and in a few cord blood samples. At present, the genetic cause of this newly discovered heterogeneity is not known; an infidelity in translation or the existence of an unrecognized gamma globin gene should be considered.
通过高效液相色谱法(HPLC)检测到了人类胎儿血红蛋白的一条新的γ链,即Mγ链。其特征在于γ141位存在亮氨酸到甲硫氨酸的替换;未发现其他结构变异。在多种类型胎儿血红蛋白遗传性持续存在(HPFH)之一的杂合子个体的红细胞裂解物中、镰状细胞贫血患者以及一些脐带血样本中都观察到了Mγ链。目前,这种新发现的异质性的遗传原因尚不清楚;应考虑翻译过程中的错误或存在未被识别的γ珠蛋白基因。