Müge Aydin SAYİTOĞLU, İnci YILDIZ, Özden HATIRNAZ, Uğur ÖZBEK

Common Cytochrome p4503A (CYP3A4 and CYP3A5) and Thiopurine S-Methyl Transferase (TPMT) Polymorphisms In Turkish Population

Polymorphisms in the genes encoding cytochrome p450 (CYP) and thiopurine S-methyl transferase (TPMT) enzymes catalyze the metabolic reactions of several drugs. These polymorphisms might be responsible for adverse drug reactions. Turkish population data for these genes still needs to be elucidated. We aimed to detect the allele frequencies of thiopurine S-methyl transferase (TPMT), cytochrome p4503A4*1B (CYP3A4*1B) and cytochrome p4503A4*3 (CYP3A5*3) gene variants in the Turkish population. We examined the TPMT (*1, *2, *3A, *3C), CYP3A4*1B and CYP3A5*3 variant allele frequencies in a group of healthy Turkish Caucasian blood donors by using PCR-RFLP, allele-specific PCR and direct sequencing techniques. The frequencies of four allelelic variants of TPMT gene, are *2 (238G>C)(2.0%), *3A (460G>A and 719A>G)(1.0%), *3B (460G>A)(0.0%) and *3C (719A>G) (1.4%). We observed CYP3A4*1B allele frequency in 1.4% and CYP3A5*3 allele frequency in 7.5% of our population. This study provides the first analysis of TPMT, CYP3A4*1B and CYP3A5*3 mutant allele frequencies in the Turkish population.

Anahtar Kelimeler:

pharmacogenetics, TPMT, CYP3A4, CYP3A5

Common Cytochrome p4503A (CYP3A4 and CYP3A5) and Thiopurine S-Methyl Transferase (TPMT) Polymorphisms In Turkish Population

Keywords:

pharmacogenetics, TPMT, CYP3A4, CYP3A5,

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TPMT*2 TPMT*3A TPMT*3C British Caucasian(n=398) 5 5 3 Ameyaw et al., 1999
American Caucasian(n=564) 2 2 2 Hon et.al., 1999
French Caucasian(n=608) 7 0 4 Ganiere-Monteil et al., 2004
German Caucasian(n=2428) 2 4 4 Elke et al., 2004 African-American(n=496) 4 8 4 Hon et.al.,1999 Italian(n=206) 4 9 9 Rossi et.al, 2001 Japanese(n=302) 0 0 6 Kumagai et.al., 2001 South-east Asian(n=698) 0 0 0 Chang et al., 2002 Brazil(n=408) 2 5 0 Boson et.al., 2003 Turkish(n=296) 0 0 4 present study n, observed number of alleles
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