A new gene deletion in the alpha-like globin gene cluster as the molecular basis for the rare alpha-thalassemia-1(--/alpha alpha) in blacks: HbH disease in sickle cell trait.
A new gene deletion in the alpha-like globin gene cluster as the molecular basis for the rare alpha-thalassemia-1(--/alpha alpha) in blacks: HbH disease in sickle cell trait.
复制标题
α 样珠蛋白基因簇中的新基因缺失是黑人罕见 α-地中海贫血-1(--/α α) 的分子基础：镰状细胞性状中的 HbH 病。
DOI：
10.1182/blood.v67.2.469.bloodjournal672469
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发表时间：
1986
期刊：
影响因子：
20.3
通讯作者：
N. Anagnou
中科院分区：
文献类型：
--
作者：
M. Steinberg;M. Coleman;J. Adams;R. Hartmann;H. Saba;N. Anagnou
在一名患有 HbH 疾病和镰状细胞性状的 10 岁黑人男孩中，发现了至少 26 KB DNA 的新缺失，包括 α 球蛋白基因、psi α 球蛋白基因和 psi zeta 球蛋白基因，但保留了功能性 zeta 基因。这种特殊的缺失以前从未在黑人中被描述过。它的存在使得黑人胎儿 Hb Barts 水肿的缺失很可能是由于缺乏两个 α 珠蛋白基因的染色体的稀有性，而不是由于功能性 zeta 珠蛋白基因的缺失而无法合成胚胎血红蛋白而导致早期胚胎死亡的结果。
A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. This particular deletion has not previously been described in blacks. Its existence makes it likely that the absence of Hb Barts hydrops fetalis in blacks is due to the rarity of the chromosome lacking two alpha-globin genes rather than a result of early embryonic death due to the failure to synthesize embryonic hemoglobins because of deletion of functional zeta-globin genes.