Orkin S H
Proc Natl Acad Sci U S A. 1978 Dec;75(12):5950-4. doi: 10.1073/pnas.75.12.5950.
The organization of alpha globin genes in normal human DNA was examined by restriction endonuclease mapping, alpha globin-specific fragments in endonuclease digests of total cell DNA were identified after electrophoresis by hybridization with [32P]cDNA following the blotting procedure of Southern [(1975) J. Mol. Biol. 98, 503--517]. The data provide direct evidence for the duplication of alpha genes and further indicate that these loci are closely linked within a single restriction fragment. The HindIII sites (codons 90/91) of these duplicated genes lie approximately 3.7 kilobases apart in the physical map proposed for this region. This organization of alpha genes can be altered in DNA of individuals with alpha-thalassemia.
通过限制性内切酶图谱分析来研究正常人DNA中α珠蛋白基因的组织情况。按照Southern印迹法[(1975)《分子生物学杂志》98, 503 - 517]，在总细胞DNA的内切酶消化产物中，经电泳分离后的α珠蛋白特异性片段，与[32P]cDNA杂交后得以鉴定。这些数据为α基因的复制提供了直接证据，并且进一步表明这些基因座在单个限制性片段内紧密相连。在为此区域提出的物理图谱中，这些重复基因的HindIII位点（密码子90/91）在物理图谱上相距约3.7千碱基对。α基因的这种组织形式在α地中海贫血患者的DNA中可能会发生改变。
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