A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.
A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.
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远距离基因缺失会影响非典型 γ δ β 地中海贫血中的 β 球蛋白基因功能。
DOI：
10.1172/jci112136
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
Lehmann,H
中科院分区：
文献类型：
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作者：
Curtin,P;Pirastu,M;Kan,YW;Gobert-Jones,JA;Stephens,AD;Lehmann,H
我们描述了一个英国家庭与非典型伽玛δ β地中海贫血综合征。杂合性导致具有正常血红蛋白A2的β-地中海贫血表型。然而，不像以前描述的情况下，没有新生儿溶血性贫血需要输血的历史。基因定位显示从G γ-珠蛋白基因上游的第三外显子延伸约100个碱基（kb）的缺失。顺式的A γ-珠蛋白、psi β-、δ-和β-珠蛋白基因保持完整。β-珠蛋白基因在染色体上的缺失位于25 kb之外，这表明染色质结构和构象对珠蛋白基因表达很重要。
We describe an English family with an atypical gamma delta beta-thalassemia syndrome. Heterozygosity results in a beta-thalassemia phenotype with normal hemoglobin A2. However, unlike previously described cases, no history of neonatal hemolytic anemia requiring blood transfusion was obtained. Gene mapping showed a deletion that extended from the third exon of the G gamma-globin gene upstream for approximately 100 kilobases (kb). The A gamma-globin, psi beta-, delta-, and beta-globin genes in cis remained intact. The malfunction of the beta-globin gene on a chromosome in which the deletion is located 25 kb away suggests that chromatin structure and conformation are important for globin gene expression.Images