INVESTIGADORES
BAILLIET Graciela
congresos y reuniones científicas
Título:
Frequencies of 4 allelic variants for NAT2 in 6 hospitals fro ECLAMC
Autor/es:
SANTOS MR; LÓPEZ-CAMELO JS; ORIOLI I; BIANCHI NO; BAILLIET G
Lugar:
Río de Janeiro, Brasil
Reunión:
Conferencia; 3th International Conference on Birth Defects and Disabilities in Developing World; 2007
Institución organizadora:
ECLAMC, RELAGH
Resumen:
Most drug-metabolizing enzyme genes show clinically relevant polymorphisms influencing the efficiency of phase I (modification of drug functional groups) or phase II (drug conjugation with endogenous moiety) reactions. NAT2 gene products modulate phase II detoxification stages. Mutations of this gene give rise to alleles and eventually to genotypes with decreased gene expression. Since the therapeutic effectiveness, adverse effects, and carcinogenic potential of many drugs and environmental pollutants are associated with NAT2 activity, the genotype characterization for these gene systems is of  high clinical significance. Interethnic differences in NAT2 allele frequencies are documented for Europeans and Amerindians. The objective of this work was to evaluate the genetic variability of NAT gene, and measure the possible influence of etnicity in the allelic frequency. We compared allele distribution among samples from different hospitals with known frequencies in European and Amerindian populations. We analyzed 167 samples from parents of cleft palate newborn of seven Argentine ECLAMC hospitals. We analyzed the 4 allele variants of NAT2 by PCR-RFLP. The average frequencies for alleles *4, *5, *6 and *7 were 30.8%, 39.8%, 14.1%, and 19.6% respectively. Frequencies for low metabolizing genotypes were between 32% and 81%. Genetic admixture was 30% Amerindian and 60% European for the total hospitals. Moreover, we observed a wide variability among hospitals, evidencing variable degrees of genetic admixture.