Pustaka Ilmiah Universitas Padjadjaran

Abstrak

Exploring N-Acetyltransferase 2 (NAT2) gene polymorphisms among population in Kupang using the GoldenGate Genotyping Assay

Introduction. N-acetyltransferase 2 enzyme, encoded by NAT2 gene, plays a significant role in the metabolism of anti-tuberculosis drugs isoniazid (INH). Polymorphisms in NAT2 gene can determine the acetylator status of individual and this status can be classified into rapid, intermediate, or slow acetylator. Objective. To determine variations in the NAT2 gene using the GoldenGate Genotyping Assay for VeraCode/BeadXpress among population in Kupang, a region in the Eastern part of Indonesia with high prevalence of tuberculosis. Material and Methods. The GoldenGate Genotyping Assay for VeraCode/BeadXpress is a genotyper machine that can detect 48 to 384 single nucleotide polymorphisms. Here we used a panel of 48 SNP and 7 rs of the most important NAT2 SNP were proposed. Genomic DNA of 234 participants were recruited. This study was part of a study to identify genes related to susceptibility to tuberculosis in Kupang, Timor. Results. Of 234 DNA, 169 met the required concentration for the machine, however, only two of 7 SNP proposed could be detected using this method; i.e. rs1801279 and rs1799930, with the distribution as followed: no variation in rs1801279 while in rs1799930 showed GG, GA and AA were 57%, 35,1% ,7.9%, respectively. Discussion. NAT2 gene screening cannot be optimally determined using GoldenGate Genotyping Assay yet, since the polymorphisms in NAT2 gene are too close to each other and the work is costly. It is worthy noted that in the area with limited resources, cheaper determination of acetylator status is needed since this status is clinically relevant prior to INH therapy to adjust the dose of treatment. We suggest that other methods i.e. sequencing might be more suitable or otherwise cheaper in determining the NAT2 gene polymorphisms.