Nishida Y, Miyamoto T
Ann Clin Biochem. 1986 Sep;23 ( Pt 5):529-32. doi: 10.1177/000456328602300507.
Simple methods for the detection of hypoxanthine-guanine phosphoribosyltransferase and/or adenine phosphoribosyltransferase deficiencies using dried filter paper blood spots were studied. Enzyme activities in the eluate from dried filter paper blood spots stored for 4 weeks at room conditions were shown to be quite stable. Autoradiographs prepared from dried filter paper blood spots and DE-81 papers soaked with enzyme reaction mixtures containing 14C-hypoxanthine and/or 14C-adenine showed sharp radioactive spots in normal subjects. No activity was evident in the cases of the Lesch-Nyhan syndrome and/or adenine phosphoribosyltransferase deficiency. The methods seem to be suitable for screening.
研究了使用干滤纸血斑检测次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶和/或腺嘌呤磷酸核糖转移酶缺乏症的简单方法。在室温条件下储存4周的干滤纸血斑洗脱液中的酶活性显示相当稳定。用含有14C - 次黄嘌呤和/或14C - 腺嘌呤的酶反应混合物浸泡的干滤纸血斑和DE - 81纸制备的放射自显影片在正常受试者中显示出清晰的放射性斑点。在莱施 - 奈恩综合征和/或腺嘌呤磷酸核糖转移酶缺乏症患者中未发现明显活性。这些方法似乎适用于筛查。
