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用咖啡因为代谢探针，对１５４例健康儿童、３１例２１－三体综合征（ＤＳ）和１８例假肥大型肌营养不良症（ＤＭＤ）患儿的Ｎ－乙酰化代谢表型进行了测定研究。正常儿童乙酰化代谢表型分布频率直方图呈典型双态性，截点明显，为０．２５（ｌｇＡＦＭＵ／１Ｘ）。慢乙酰化代谢表型为１６．９％，而ＤＳ和ＤＭＤ患儿慢乙酰化代谢表型则分别为４１．９％和５０％，差异有显著性（χ２分别为８．２８７和１１．３８７，Ｐ＜０．００５）。年龄和性别对乙酰化代谢表型分布无明显影响。
Using caffeine as a metabolic probe, N-acetylated metabolic phenotypes in 154 healthy children, 31 trisomy 21 and 18 hypertrophic muscular dystrophy (DMD) children were studied . Normal children with acetylated metabolic phenotype frequency histogram showed a typical biphasic, cut-off point was 0.25 (lgAFMU / 1X). The slow acetylated metabolic phenotype was 16.9%, while the slow acetylated metabolic phenotype in children with DS and DMD was 41.9% and 50%, respectively, with significant differences (χ2 = 8.287 and 11.387 , P <0.005). Age and gender had no significant effect on the distribution of acetylated metabolic phenotypes.