AIM: To detect 388G>A and 521T>C variant alleles in the organic anion transporting polypeptide-1B1 (OATP1B1, encoding gene SLCO1B1) gene. METHODS: One hundred and eleven healthy volunteers were screened for OATP1B1 alleles in our study. PCR-restriction fragment length polymorphism was used to identify the 388G>A polymorphism and a 1-step tetra-primer method was developed for the determination of 521T>C mutation. RESULTS: The frequencies of the 388G>A and 521T>C variant alleles in the Chinese population were 73.4% and 14.0%, respectively. The frequencies of the SLCO1B1*1b and *15 haplotypes were 59.9% and 14.0%, respectively. CONCLUSION: The SLCO1B1*1b and SLCO1B1*15 variants are relatively common in the Chinese population. Their frequencies are similar to that in the Japanese, but significantly different from that in Caucasians and blacks.
AIM: To detect 388G>A and 521T>C variant alleles in the organic anion transporting polypeptide-1B1 (OATP1B1, encoding gene SLCO1B1) gene. METHODS: One hundred and eleven healthy volunteers were screened for OATP1B1 alleles in our study. PCR-restriction fragment length polymorphism was used to identify the 388G>A polymorphism and a 1-step tetra-primer method was developed for the determination of 521T>C mutation. RESULTS: The frequencies of the 388G>A and 521T>C variant alleles in the Chinese population were 73.4% and 14.0%, respectively. The frequencies of the SLCO1B1*1b and *15 haplotypes were 59.9% and 14.0%, respectively. CONCLUSION: The SLCO1B1*1b and SLCO1B1*15 variants are relatively common in the Chinese population. Their frequencies are similar to that in the Japanese, but significantly different from that in Caucasians and blacks.
Authors: Alice C Rodrigues; Paula M S Perin; Sheila G Purim; Vivian N Silbiger; Fabiana D V Genvigir; Maria Alice V Willrich; Simone S Arazi; Andre D Luchessi; Mario H Hirata; Marcia M S Bernik; Egidio L Dorea; Carla Santos; Andre A Faludi; Marcelo C Bertolami; Antonio Salas; Ana Freire; Maria V Lareu; Christopher Phillips; Liliana Porras-Hurtado; Manuel Fondevila; Angel Carracedo; Rosario D C Hirata Journal: Int J Mol Sci Date: 2011-09-09 Impact factor: 5.923
Authors: A Daka Grapci; A J Dimovski; A Kapedanovska; M Vavlukis; A Eftimov; N Matevska Geshkovska; N Labachevski; K Jakjovski; D Gorani; S Kedev; K Mladenovska Journal: Balkan J Med Genet Date: 2015-12-30 Impact factor: 0.519