Globin chain synthesis in the greek type (A gamma) of hereditary persisitence of fetal haemoglobin.
Globin chain synthesis in the greek type (A gamma) of hereditary persisitence of fetal haemoglobin.
复制标题
胎儿血红蛋白遗传性持久性的希腊型（A伽玛）中的珠蛋白链合成。
DOI：
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发表时间：
1975
影响因子：
6.5
通讯作者：
G. Stamatoyannopoulos
中科院分区：
文献类型：
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作者：
K. Sofroniadou;W. Wood;P. Nute;G. Stamatoyannopoulos
珠蛋白链的合成进行了研究，在一个家庭与希腊（γ）型遗传持续性胎儿血红蛋白和β地中海贫血。胎儿血红蛋白（HPFH）杂合子遗传持续性的α/（γ + β + δ）链合成的比例为0.97，而在HPFH/β-地中海贫血杂合子，它是2.14。然而，每个细胞血红蛋白合成量的计算表明，在HPFH/β-地中海贫血杂合子中，HPFH决定簇顺式的β-和Δ γ-链基因不能补偿β-地中海贫血基因反式施加的链的缺陷，并且Hb F的合成增加是由位于β-地中海贫血染色体上的γ-链基因指导的。这些数据表明，在希腊HPFH的β和γ链的合成固定在一个“预设”的水平，并表明该缺陷可能是由于在密切相关的β，δ和γ链基因的转录速率异常。
Globin chain synthesis was studied in a family with both the Greek (Agamma) type of hereditary persistence of fetal haemoglobin and beta thalassaemia. The ratio of alpha/(gamma+beta+delta) chain synthesis in the hereditary persistence of fetal haemoglobin (HPFH) heterozygotes was 0.97 while in the HPFH/beta-thalassaemia heterozygote it was 2.14. However, calculation of the amounts of haemoglobin synthesized per cell suggests that in the HPFH/beta-thalassaemia heterozygote, the beta- and Agamma-chain genes in cis to the HPFH determinant are unable to compensate for the deficiency of chains imposed by the beta-thalassaemia gene in trans and that the increased synthesis of Hb F is directed by the gamma-chain genes located on the beta-thalassaemia chromosome. The data suggest that synthesis of beta and Agamma chains in the Greek HPFH is fixed at a 'preset' level and indicate that the defect might be due to an abnormality in the rate of transcription of the closely linked beta-, delta- and gamma-chain genes.