Genetics and Molecular Biology · 2000 · 20 citations · 30 references
GeneticsGenetic EpidemiologyHuman PolymorphismGstm1 PhenotypesClinical GeneticsGenotype-phenotype AssociationMolecular EcologyDemographic MeasurementsBiostatisticsPublic HealthPopulationGlutathione S-transferase M1Haplotype DeterminationQuantitative GeneticsInherited Metabolic DiseaseStatistical GeneticsGenetic VariationPopulation GeneticsEpidemiologyUnrelated Blood DonorsAllelic VariantGenetic DeterminantGstm1 Phenotype FrequenciesMedicine
The distribution of GSTM1 phenotype frequencies was studied in two Brazilian samples composed of healthy and unrelated blood donors of both sexes ranging in age from 18 to 61 years. The first sample consisted of 658 individuals from Rio de Janeiro, and the second included 179 individuals from Brasília. The GSTM1 phenotypes were detected using PCR reactions and subsequent digestion by the restriction enzyme HaeII. The GSTM1 null phenotype frequency was 46% and 49% for Rio de Janeiro and Brasília samples, respectively. The GSTM1 phenotype distributions were not in agreement with Hardy-Weinberg equilibrium in either sample, chi²1 = 11.49 (P < 0.001) for Rio de Janeiro and chi²1 = 6.77 (P < 0.01) for Brasília. This deviation from Hardy-Weinberg equilibrium may be due to factors such as selection, errors in the phenotype determination or incomplete panmixia of the Brazilian population, whose main racial components are Caucasians, Africans and Indians.
30
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.1K citations
Janeric Seidegård, William R. Vorachek, R W Pero et al. · Proceedings of the National Academy of Sciences · 1988 · 732 citations · Full text
Douglas A. Bell, Jack A. Taylor, David F. Paulson et al. · JNCI Journal of the National Cancer Institute · 1993 · 704 citations