THE MOLECULAR CHARACTERIZATION OF SPONTANEOUS HGPRT MUTATIONS

次黄嘌呤缺乏的基因结构改变类型 自发性鸟嘌呤磷酸核糖转移酶(HGPRT)活性 目前正在对培养的人类成纤维细胞进行突变检测。不足之处 这种酶活性的缺失会导致人类疾病(莱施-尼汉综合征)。这个 突变体HGPRT基因序列的限制性内切酶酶切图谱 LINES正在进行分析。这项工作目前的重点是获得一个 新生儿体内存在大量独立的自发突变体 宝宝的包皮。从中国分离出40个独立的突变体 不同的正常新生儿。突变的细胞大量生长。 将部分培养细胞冷冻在液氮中进行细胞遗传学研究 以及未来的酶学研究和部分培养细胞 冷冻后进行DNA提取。Southern杂交分析目前正在进行中 评估自发性DNA重排的可能参与 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 is being analyzed. The work is presently focused on obtaining a large number of independent spontaneous mutants that existed in newborn 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.