关于人类胎儿血红蛋白Tγ链的频率及意义的进一步研究。
Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin.
作者信息
Schroeder W A, Huisman T H, Efremov G D, Shelton J R, Shelton J B, Phillips R, Reese A, Gravely M, Harrison J M, Lam H
出版信息
J Clin Invest. 1979 Feb;63(2):268-75. doi: 10.1172/JCI109299.
A further study of the Tgamma-chain in a variety of conditions has revealed its presence in the cord bloods of ethnic groups previously unstudied. Heterozygous newborn average 17-19% Tgamma-chain while the mean value in four presumed homozygotes was 31%. The Tgamma-chain is readily detectable in beta-thalassemia of various ethnic groups (although infrequent in Blacks) as well as in deltabeta-thalassemia. Studies of a few families have provided an opportunity to determine whether or not certain individuals are heterozygous or homozygous for the Tgamma-gene. The Tgamma-chain has not been detected in the human fetal hemoglobin that is synthesized in increased amounts in persons with the hereditary persistence of fetal hemoglobin. Although the Tgamma-chain is detectable in sickle cell anemia, its frequency appears to be lower than in normal individuals. By focusing upon the relationship of the percentage of Tgamma-chain to the sources of human fetal globulin from determinants in cis and in trans, the conclusion has been reached that the Tgamma-chain is the product of a mutant Agamma-locus which should be named the TAgamma-chain.
对多种情况下的Tγ链进行的进一步研究发现，在之前未研究过的种族的脐带血中也存在该链。杂合子新生儿的Tγ链平均为17 - 19%，而四个推测为纯合子的平均值为31%。在不同种族的β地中海贫血（尽管在黑人中不常见）以及δβ地中海贫血中，Tγ链很容易被检测到。对一些家庭的研究提供了一个机会，来确定某些个体对于Tγ基因是杂合子还是纯合子。在遗传性胎儿血红蛋白持续存在的个体中合成量增加的人类胎儿血红蛋白中，未检测到Tγ链。虽然在镰状细胞贫血中可检测到Tγ链，但其频率似乎低于正常个体。通过关注Tγ链百分比与来自顺式和反式决定簇的人类胎儿球蛋白来源之间的关系，得出的结论是，Tγ链是一个突变的Aγ基因座的产物，应命名为T Aγ链。
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