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CYP3A4*18: It is not Rare Allele in Japanese Population

https://doi.org/10.2133/dmpk.18.267Get rights and content

Summary:

We sequenced all 13 exons of the CYP3A4 gene derived from 48 Japanese subjects. One subject possess the 20070 T>C mutation in the exon 10 (result in leu293Pro substitution, namely CYP3A4*18), as heterozygote. Thus, we investigated the frequency of CYP3A4*18 in 118 Japanese population using polymerase chain reaction-restriction fragment length polymorphism with Msp I and determined that the frequency of the CYP3A4*18 allele was 1.3%.

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    There are other single nucleotide polymorphisms of CYP3A5 including CYP3A5*2, CYP3A5*4, and CYP3A5*5, as well as polymorphisms of CYP3A4 including CYP3A4*1B, CYP3A4*4, CYP3A4*16, CYP3A4*18, and CYP3A4*22. However, these polymorphisms are not frequent in the Japanese population [28,35–39]. Thus, they were not genotyped in this study.

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