Rapid detection of C2938T, G1846T, G1846A and C188T gene mutation in mainland Chinese
- VernacularTitle:快速检测中国人群C2938T、G1846T、G1846A、C188T点突变
- Author:
Ling JI
- Publication Type:Journal Article
- Keywords:
Cytochrome P-450 Enzyme System;
Alleles;
Point Mutation;
Genotype;
Metabolism
- From:
International Journal of Laboratory Medicine
2008;29(7):577-580
- CountryChina
- Language:Chinese
-
Abstract:
Background The cytochrome P450-dependent monooxygenase 2D6 (CYP2D6) ac- tivity can he estimated by investigating the metabolism of model drugs or by genotyping the most com- mon CYP2D6 alleles. The CYP2D6 allele frequencies are well investigated in Caucasians whereas no comprehensive allele analysis has been done in mainland Chinese. The aim of the study was to investi- gate C2938T, G1846T, G1846A and C188T gene mutation in mainland Chinese. Methods Three tet- ra-primer PCR assays and one allele specific amplification (ASA)-PCR assay were developed to easily genotype C2938T, G1846T, G1846A and C188T mutation in CYP2D6 allele in 223 cases of mainland Chinese. Results The most frequent allele was * 10 (C188T) with a prevalence of 51.3%, followed by * 2 allele (C2938, 15. 5%) in mainland Chinese. The distribution frequence of a novel variant CYP2D6 * 14B was 2.0%. This novel * 14B allele was different from * 14 allele by the absence of the C188T substitution and by the additional G1749C substitution. Conclusion This comprehensive study of CYP2D6 allele in mainland Chinese shows some genetic diversity compared to Chinese from other regions. Genotyping is a useful method in applying drug individuation.
