人同源异型盒基因Hu-1位点的RFLPs研究

用12种限制性核酸内切酶分别对4至104条人类染色体进行酶谱分析,以寻找Hu-1基因附近的限制性酶切多态位点,仅发现了Bg 1Ⅱ酶的一个多态性位点。表现为Bg 1Ⅱ酶谱中除3.6kb片段外,杂合子型尚具6.3及6.6kb两种片段,而纯合子型则只有6.3或6.6kb一种片段。在所检查的104条染色体中6.6kb片段出现的频率为3.88％,而6.3kb片段出现的频率为96.12％。经统计分析,计算出Hu-1基因及其附近的核苷酸变异率为0.0017,大体上与人β珠蛋白基因簇及人α-1-抗胰蛋白酶基因的核苷酸变异率相似。文中对本工作的意义进行了初步讨论。

A Study of Restriction Fragment Length Polymorphisms in Human Homeobox Hu-1 Containing Gene

By using 12 different restriction endonucleases, a survey for the restriction fragment length polymorphisms (RFLPs) of the human homeobox containing gene (Hu-1) was conducted for up to 104 human chromosomes. There was only one polymorphic site for BglII found in this study,which gives two DNAs fragments of 6.3 and 6.6kb in heterozygotes, and only one fragment either of 6.3 or 6.6kb in homozy-gotic individuals in addition to 3.6 kb fragment present in all cases. In 104 chromosomes studied the frequency for the occurance of 6.6kb fragment is 3.88%,while that for 6.3kb is 96.12%. The mutation rate of the nucleotides on the Hu-1 gene and its flanking region is 0.0017 as calculated by statistic analysis, this is approximately corresponding to the mutation rates of both human β-globin gene cluster and human α-anti-trypsin gene. The significance of this work was discussed.