Popp R A, Lalley P A, Whitney J B, Anderson W F
Proc Natl Acad Sci U S A. 1981 Oct;78(10):6362-6. doi: 10.1073/pnas.78.10.6362.
A genetic polymorphism for a Bgl I endonuclease site near the alpha-globin-like pseudogene alpha-4 of C57BL/6 and C3H/HeN mice was used to show that alpha-4 was not affected by three independent mutations in which the adult globin genes alpha-1 and alpha-2 were deleted. These results indicated that alpha-4 might not be located adjacent to the adult alpha-globin genes on chromosome 11. Restriction endonuclease analysis of DNA of a primary clone of a Chinese hamster--mouse somatic cell hybrid that had lost mouse chromosomes 11 and 18 showed that this clone lacked the adult murine globin genes alpha-1 and alpha-2 but it did contain the alpha-globin-like pseudogenes alpha-3 and alpha-4. These results indicated that the adult alpha-globin genes and alpha-globin-like pseudogenes are not located on the same chromosome. Similar analyses of several other Chinese hamster--mouse somatic cell hybrids that had segregated other mouse chromosomes indicated that the alpha-globin-like pseudogenes alpha-3 and alpha-4 are located on mouse chromosomes 15 and 17, respectively. These data explain why alpha-3 and alpha-4 were not affected by the three independently induced deletion-type mutations that cause alpha-thalassemia in the mouse.
利用C57BL/6和C3H/HeN小鼠α-珠蛋白样假基因α-4附近Bgl I核酸内切酶位点的遗传多态性，证明α-4不受三个独立突变的影响，这三个突变导致成年珠蛋白基因α-1和α-2缺失。这些结果表明，α-4可能不位于11号染色体上成年α-珠蛋白基因附近。对一个丢失了小鼠11号和18号染色体的中国仓鼠-小鼠体细胞杂种初级克隆的DNA进行限制性内切酶分析，结果显示该克隆缺乏成年小鼠珠蛋白基因α-1和α-2，但确实含有α-珠蛋白样假基因α-3和α-4。这些结果表明，成年α-珠蛋白基因和α-珠蛋白样假基因不在同一条染色体上。对其他几个已分离出其他小鼠染色体的中国仓鼠-小鼠体细胞杂种进行的类似分析表明，α-珠蛋白样假基因α-3和α-4分别位于小鼠15号和17号染色体上。这些数据解释了为什么α-3和α-4不受在小鼠中导致α-地中海贫血的三个独立诱导的缺失型突变的影响。
