Copy Number Variation In Gluthatione S-Transferase Variants Using Multiplex Ligation-Dependent Probe Amplification In A Health Population In Goiania - GO.

Abstract

Genetic polymorphisms in glutathione S-transferases (GSTs) genes might influence the detoxification activities of the enzymes predisposing individuals to a lot of diseases. Owing to the presence of these genetic variants, inter-individual and ethnic differences in GSTs detoxification capacity have been observed in various populations. Therefore, the present study was performed to determine GST variants in 100 healthy individuals from Goiania - GO with a new methodology. GSTM1, GSTT1 and GSTP1 variants were analyzed by a MPLA (Multiplex Ligation by Probe Amplification) approach. The results obtained for the GSTM1 gene in exon 3 we found 43 deletions and 24 duplications, for exon 5 we found 45 deletions and 11 duplications, for the GSTT1 gene in exon 1 we found 14 deletions, and 18 duplications, for exon 5 we found 23 deletions and 28 duplications. For the GSTP1 gene in exon 3, we found only 1 deletion and for exon 4 we do not found any alteration. These findings in healthy population, give us such more information for the future epidemiological and clinical studies. Using to examine the effect of these combinations in drugs metabolism and cancer predisposition, further largest group would be needed, since their frequencies are quite low. To our of GSTs variations, this is the first study with this methodology indicating the frequencies of genetic variants of GST superfamily in a health population in a Goiania population, and this study gives us new possibilities and data for new research using this same methodology.