THE MOLECULAR CHARACTERIZATION OF SPONTANEOUS HGPRT MUTATIONS

次黄嘌呤缺乏症的基因结构改变类型 鸟嘌呤磷酸核糖转移酶（HGPRT）活性 在培养的人成纤维细胞中检测突变。 的不足 这种酶的活性导致人类疾病（莱-尼二氏综合征）。 的 突变体中HGPRT基因序列的限制性酶切模式 正在分析线路。 目前的工作重点是获得一个 新生儿中存在大量独立的自发突变体， 宝宝的包皮 已经分离出40个独立的突变体， 不同的正常新生儿 突变细胞大量生长。 将部分培养的细胞冷冻在液氮中用于细胞遗传学分析。 和酶学研究在未来的时间和部分培养细胞， 冷冻起来提取DNA Southern印迹分析正在进行中， 评估DNA重排可能参与自发性 突变

The types of gene structural changes causing deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) activity in spontaneous mutations is being examined in cultured human fibroblasts. The deficiency of this enzyme activity causes a human disease (Lesch-Nyhan Syndrome). The restriction enzyme cleavage patterns of HGPRT gene sequences in mutant lines are being analyzed. The work is presently focused on obtaining a large number of independent spontaneous mutants that existed in new born baby's foreskins. Forty independent mutants have been isolated from different normal newborns. The mutant cells were grown to large numbers. Portions of cultured cells were frozen in liquid nitrogen for cytogenetic and enzymology studies at a future time and portions of cultured cells were frozen for DNA extraction. Southern blot analysis is now in progress to assess the possible involvement of DNA rearrangements in spontaneous mutation.