Persson I, Aklillu E, Rodrigues F, Bertilsson L, Ingelman-Sundberg M
Faculty of medicine, Addis Ababa University, Ethiopia.
Pharmacogenetics. 1996 Dec;6(6):521-6. doi: 10.1097/00008571-199612000-00005.
The polymorphic metabolism of S-mephenytoin and the distribution of two known deleterious mutant CYP2C19 alleles was determined among 114 healthy unrelated black Ethiopians. Six subjects (5.2%) were poor metabolizers (PMs) of S-mephenytoin. The frequencies of the defective CYP2C192 (CYP2C19m1) and CYP2C193 (CYP2C19m2) alleles were 0.14 and 0.02, respectively. Three of the PMs were homozygous for the CYP2C192 allele and the remaining three PMs were heterozygous for both the CYP2C192 and CYP2C193 mutant alleles. It is concluded that the frequency of PMs for S-mephenytoin is similar in Ethiopians, Zimbabweans and Caucasians and that the CYP2C193 allele, for the first time identified in a black population, together with the CYP2C19*2 allele account for all of the defective CYP2C19 alleles among the Ethiopian PMs.
在114名健康、无血缘关系的埃塞俄比亚黑人中，测定了S-美芬妥因的多态性代谢以及两种已知有害突变CYP2C19等位基因的分布情况。6名受试者（5.2%）为S-美芬妥因的慢代谢者（PMs）。缺陷型CYP2C192（CYP2C19m1）和CYP2C193（CYP2C19m2）等位基因的频率分别为0.14和0.02。其中3名慢代谢者为CYP2C192等位基因纯合子，其余3名慢代谢者为CYP2C192和CYP2C193突变等位基因杂合子。得出的结论是，埃塞俄比亚人、津巴布韦人和高加索人中S-美芬妥因慢代谢者的频率相似，并且首次在黑人人群中鉴定出的CYP2C193等位基因，与CYP2C19*2等位基因一起，构成了埃塞俄比亚慢代谢者中所有缺陷型CYP2C19等位基因。
