S-mephenytoin hydroxylation phenotype and CYP2C19 genotype among ethiopians

S-mephenytoin hydroxylation phenotype and CYP2C19 genotype among ethiopians
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DOI:
10.1097/00008571-199612000-00005
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发表时间:
1996-12-01
期刊:
PHARMACOGENETICS
影响因子:
--
通讯作者:
IngelmanSundberg, M
IngelmanSundberg, M
中科院分区:
其他
文献类型:
--
作者:
Persson, I;Aklillu, E;IngelmanSundberg, M

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本文对114名健康无血缘关系的美国黑人进行了S-美芬妥英代谢多态性和两种已知有害突变型CYP 2C 19等位基因的分布测定。(5.2%)为S-美芬妥英的弱代谢型(PM),(CYP 2C 19 m1)和CYP 2C 19 +3(CYP 2C 19 m2)等位基因分别为0.14和0.02,其中3个PM为CYP 2C 19 *2等位基因纯合子,其余3个PM为CYP 2C 192和CYP 2C 19 *3突变等位基因杂合子,可以得出结论,S-美芬妥英的PM的频率是相似的,在埃塞俄比亚人,津巴布韦人和高加索人和CYP 2C 19 *3等位基因,首次在黑人人口中确定,连同CYP 2C 19 *2等位基因占所有的缺陷CYP 2C 19等位基因之间的埃塞俄比亚PM。
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 CYP2C19*2 (CYP2C19m1) and CYP2C19+3 (CYP2C19m2) alleles were 0.14 and 0.02, respectively, Three of the PMs were homozygous for the CYP2C19*2 allele and the remaining three PMs were heterozygous for both the CYP2C192 and CYP2C19*3 mutant alleles, It is concluded that the frequency of PMs for S-mephenytoin is similar in Ethiopians, Zimbabweans and Caucasians and that the CYP2C19*3 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 Ethiopan PMs.