Zoref E, Sperling O
Hum Hered. 1979;29(1):64-8. doi: 10.1159/000153018.
The metabolic consequence of hypoxanthine-guanine phosphoribosyltransferase deficiency, the accelerated rate of purine synthesis de novo, was utilized as a marker for the detection in cultured fibroblasts of heterozygosity for the Lesch-Nyhan syndrome. This marker was found to be very sensitive allowing the detection of mutant cells in nonselected mixed mutant: normal cell cultures even at low proportion of 1 to 10. Exposure of the mixed cultures to selection for the mutant cell with azaguanine increased the sensitivity of the test. Cultures from different biopsies, obtained from heterozygote females, were found to contain different proportions of the mutant cell, ranging from 10 to 84%.
次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏的代谢后果，即嘌呤从头合成速率加快，被用作检测培养成纤维细胞中莱施 - 奈恩综合征杂合性的标志物。发现该标志物非常敏感，即使在1比10的低比例下，也能在未选择的混合突变体：正常细胞培养物中检测到突变细胞。将混合培养物暴露于用氮杂鸟嘌呤选择突变细胞可提高检测的灵敏度。从杂合子女性获得的不同活检组织的培养物中，发现含有不同比例的突变细胞，范围从10%到84%。
