Globin Chain Synthesis in the Greek Type (Aγ) of Hereditary Persistence of Fetal Haemoglobin
Globin Chain Synthesis in the Greek Type (Aγ) of Hereditary Persistence of Fetal Haemoglobin
复制标题
胎儿血红蛋白遗传性持续的希腊型（Aγ）中的球蛋白链合成
DOI：
10.1111/j.1365-2141.1975.tb01807.x
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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：
--
作者：
K. Sofroniadou;W. Wood;P. Nute;G. Stamatoyannopoulos
总结。珠蛋白链合成研究在一个家庭与希腊（a γ）型遗传性持久性胎儿血红蛋白和β地中海贫血。胎儿血红蛋白（HPFH）杂合子的α/(γ+β+δ)链合成比为0.97，而HPFHβ‐地中海贫血杂合子的α/(γ+β+δ)链合成比为2.14。然而，对每个细胞血红蛋白合成量的计算表明，在HPFHβ -地中海贫血杂合子中，顺式HPFH决定因素的β -和a - γ链基因无法补偿反式β -地中海贫血基因所施加的链缺失，并且Hb F合成的增加是由位于β -地中海贫血染色体上的y -链基因指导的。这些数据表明，希腊HPFH中β链和α链的合成固定在“预设”水平，并表明这种缺陷可能是由于紧密相连的β链、δ链和γ链基因的转录速率异常。
Summary. Globin chain synthesis was studied in a family with both the Greek (Aγ) type of hereditary persistence of fetal haemoglobin and β thalassaemia. The ratio of α/(γ+β+δ) chain synthesis in the hereditary persistence of fetal haemoglobin (HPFH) heterozygotes was 0.97 while in the HPFHβ‐thalassaemia heterozygote it was 2.14. However, calculation of the amounts of haemoglobin synthesized per cell suggests that in the HPFHβ‐thalassaemia heterozygote, the β‐ and Aγ‐chain genes in cis to the HPFH determinant are unable to compensate for the deficiency of chains imposed by the β‐thalassaemia gene in trans and that the increased synthesis of Hb F is directed by the y‐chain genes located on the β‐thalassaemia chromosome. The data suggest that synthesis of β and Aγ 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 β‐, δ‐ and γ‐chain genes.