goiata - go健康人群中谷胱甘肽s转移酶变异的研究

Lucas Carlos Gomes Pereira, N. A. Bérgamo, A. Reis, C. Anunciação, E. Silveira-Lacerda
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摘要

谷胱甘肽s -转移酶(GSTs)基因的遗传多态性可能影响该酶的解毒活性,使个体易患多种疾病。由于这些遗传变异的存在,在不同人群中观察到GSTs解毒能力的个体间和种族差异。因此,本研究旨在确定100例goinia - GO健康个体中GSTM1*0/*0、GSTT1*0/*0和GSTP1 Ile105Val多态性的患病率。采用多重pcr方法分析GSTM1和GSTT1多态性,采用PCR-RFLP方法检测GSTP1多态性。GSTM1和GSTT1 *0/*0基因型的频率分别为49%和31%。GSTP1 Ile/Ile、Ile/Val和Val/Val基因型频率分别为40%、53%和7%。野生型(Ile)和变异型(Val)等位基因频率分别为66.5%和33.5%。GSTM1、GSTT1和GSTP1基因型的组合分布表明,在人群中存在12种可能的基因型;其中7个频率大于5%。这些GSTs多态性的组合基因型的影响尚不清楚。这些在健康人群中的发现,为我们未来的流行病学和临床研究提供了更多的信息。为了检验这些组合对药物代谢和癌症易感性的影响,还需要进一步的大规模研究,因为它们的频率相当低。对于我们的GST多态性,这是第一个研究表明GST超家族遗传多态性在Goiania人群中健康人群的频率。
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Investigation of Gluthatione S-Transferase Variants in a Healthy Population in Goiânia-Go
Genetic polymorphisms in glutathione S-transferases (GSTs) genes might influence the detoxification activities of the enzymes predisposing individuals to a lot of disiases. 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 the prevalence GSTM1*0/*0, GSTT1*0/*0 and GSTP1 Ile105Val polymorphisms in 100 healthy individuals from Goiânia - GO. GSTM1 and GSTT1 polymorphisms were analyzed by a Multiplex-PCR approach, whereas GSTP1 polymorphisms were examined by PCR-RFLP. The frequencies of GSTM1 and GSTT1 *0/*0 genotypes are 49% and 31%, respectively. The frequencies of GSTP1 Ile/Ile, Ile/Val and Val/Val genotypes were 40%, 53% and 7%, respectively. The wild-type (Ile) and variant (Val) allele frequencies were 66.5% and 33.5%, respectively. The combined genotypes distribution of GSTM1, GSTT1 and GSTP1 polymorphisms showed 12 possible genotypes present in our population; seven of them have a frequency greater than 5%. The effect of combined genotypes of these GSTs polymorphisms is still unknown. 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 polymorphisms, this is the first study indicating the frequencies of genetic polymorphisms of GST superfamily in a health population in a Goiania population.
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