台湾地区血红蛋白H病的分子基础。
The molecular basis of HbH disease in Taiwan.
作者信息
Peng H W, Han S H, Chow T Y, Ho C H, Ching K N, Chiang B N
机构信息
Department of Medicine, Veterans General Hospital, Taipei, Taiwan, Republic of China.
出版信息
Hum Genet. 1988 Feb;78(2):137-9. doi: 10.1007/BF00278183.
We have determined the molecular characteristics of alpha-thalassemia in 12 HbH subjects from Taiwan by restriction endonuclease mapping with alpha- and zeta-specific probes. We have found four types of defects in the alpha-thalassemia-2 genetic determinant: -alpha 3.7 type I; -alpha 4.2; alpha CS alpha; and alpha alpha T. All HbH subjects carried the --SEA genotype in the alpha-thalassemia-1 determinant. At least two different subtypes of --SEA genotype were observed in this study.
我们通过使用α和ζ特异性探针进行限制性内切酶图谱分析，确定了来自台湾的12名HbH患者的α地中海贫血分子特征。我们在α地中海贫血-2基因决定簇中发现了四种类型的缺陷：-α3.7 I型；-α4.2；αCSα；以及ααT。所有HbH患者在α地中海贫血-1基因决定簇中都携带--SEA基因型。在本研究中观察到至少两种不同的--SEA基因型亚型。
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