Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.
Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.
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由整个β-珠蛋白簇的新缺失引起的新生儿溶血病。
DOI：
10.1172/jci111008
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发表时间：
1983
期刊：
影响因子：
--
通讯作者：
Holbrook,CT
中科院分区：
文献类型：
--
作者：
Pirastu,M;Kan,YW;Lin,CC;Baine,RM;Holbrook,CT
我们描述了一种新型的γ δ β地中海贫血在四代的一个家庭的苏格兰-爱尔兰血统。先证者出现新生儿溶血病，其特征为小红细胞性贫血。DNA的初步限制性内切酶分析显示没有明显异常的模式，但多态性限制性位点和基因剂量的研究显示，从受影响的染色体中删除了所有的β和β样珠蛋白基因的广泛缺失。用放射性β-珠蛋白基因探针对染色体制备物进行原位杂交，结果显示，在受影响的家族成员中，只有一个11 p同源物含有β-珠蛋白基因簇。
We describe a new type of gamma delta beta-thalassemia in four generations of a family of Scotch-Irish descent. The proposita presented with hemolytic disease of the newborn, which was characterized by a microcytic anemia. Initial restriction endonuclease analysis of the DNA showed no grossly abnormal patterns, but studies of polymorphic restriction sites and gene dosage revealed an extensive deletion that removed all the beta- and beta-like globin genes from the affected chromosome. In situ hybridization of chromosome preparations with radioactive beta-globin gene probes showed that only one 11p homolog contained the beta-globin gene cluster in the affected family members.ImagesFIGURE 2FIGURE 4FIGURE 5