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目的 以咖啡因为代谢探针，研究汉族儿童Ｎ－乙酰化代谢表型分布规律及其与２１－三体综合征（ＤＳ）和假肥大性肌营养不良症（ＤＭＤ）相关性。方法 根据参试者尿中咖啡因代谢物５－乙酰氨基－６－甲酰氨基－３－甲基尿嘧啶（ＡＦＭＵ）和甲磺嘌呤（１Ｘ）峰高比的对数值（１ｇＡＦＭＵ／１Ｘ）绘制频率分布直方图，寻找区分快、慢乙酰化代谢表型的截点，确定患儿和健康儿童的Ｎ－乙酰化代谢表型分布。结果 正常儿童乙酰化代谢表型分布直方图呈双态性，截点明显，为 ０．２５（ｌｇＡＦＭＵ／１Ｘ），慢乙酰化代谢表型个体为１６．９％，而 ＤＳ和ＤＭＤ患儿则分别为４１．９％和５０％（ｘ２分别为８．２８７和１１．３８７，Ｐ＜０．０５）。男、女和＞６岁与≤６岁儿童快、慢乙酰化代谢表型分布差异无显著性。结论 汉族儿童乙酰化代谢表型分布呈多态性，与成人相似。年龄和性别对结果无显著影响。
Objective To investigate the distribution of N-acetylated phenotypes in Han children and its relationship with 21-trisomy syndrome (DS) and Duchenne muscular dystrophy (DMD) using caffeine as a metabolic probe. The method was based on the logarithmic value (1 g AFMU / 1X) of peak height-ratio of caffeine metabolites 5-acetamido-6-formamido-3-methyluracil (AFMU) and metsulfuron Frequency distribution histogram, look for the cut-off point to distinguish fast and slow acetylated metabolic phenotypes, and determine the N-acetylated metabolic phenotype distribution in children and healthy children. Results The distribution of histone acetylation phenotype in normal children showed a bimodal distribution with a significant cut-off point of 0.25 (lgAFMU / 1X) and a slow-acetylated phenotype of 16.9%, while DS and DMD children 41.9% and 50% respectively (x2 = 8.287 and 11.387, respectively, P <0.05). Male and female> There was no significant difference in the distribution of fast and slow acetylated metabolic phenotypes between children 6 and 6 years old. Conclusion The distribution of acetylation phenotype in Han children is polymorphic, similar to that in adults. Age and gender had no significant effect on the outcome.