Lie-Injo L E, Herrera A R, Kan Y W
Nucleic Acids Res. 1981 Aug 11;9(15):3707-17. doi: 10.1093/nar/9.15.3707.
DNA from healthy Malaysian newborns was studied on gene maps after digestion with different restriction endonucleases. Of 65 newborns, two were found to be carriers of two different variants of triplicated alpha-globin loci. In variant no. 1, found in an Malay, the three alpha-globin genes are in an elongated DNA fragment on digestion with Eco RI and Bam HI. The third alpha-globin gene was found in a additional 3.7-kb fragment on digestion with Hpa I, Bgl II and Hind III. In variant no. 2, a new type of triplicated alpha-globin loci, found in a Chinese, the three alpha-globin genes reside in an elongated DNA fragment longer than that of variant no. 1 on digestion with Eco RI and Bam HI. The third alpha-globin gene was found in an additional 4.2-kb fragment on digestion with Hpa I and Hind III. Digestion of this variant DNA with Bg1 II produced an abnormal 16.7-kb fragment in addition to the normal 7.0-kb Bgl-II fragment. The locations of the restriction sites in the two types of triplicated alpha-globin loci are compatible with a mechanism of unequal crossing over following two different modes of misalignment.
对来自健康马来西亚新生儿的DNA在用不同限制性内切酶消化后进行基因图谱研究。在65名新生儿中,发现有两名是三倍体α-珠蛋白基因座两种不同变体的携带者。在变体1中,在一名马来人中发现,在用Eco RI和Bam HI消化后,三个α-珠蛋白基因位于一个延长的DNA片段中。在用Hpa I、Bgl II和Hind III消化后,第三个α-珠蛋白基因位于一个额外的3.7 kb片段中。在变体2中,一种新型的三倍体α-珠蛋白基因座,在一名中国人中发现,在用Eco RI和Bam HI消化后,三个α-珠蛋白基因位于一个比变体1更长的延长DNA片段中。在用Hpa I和Hind III消化后,第三个α-珠蛋白基因位于一个额外的4.2 kb片段中。用Bg1 II消化这种变体DNA除了产生正常的7.0 kb Bgl-II片段外,还产生了一个异常的16.7 kb片段。两种类型的三倍体α-珠蛋白基因座中限制性位点的位置与两种不同错配模式后不等交换的机制相符。