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SQUMJ-Sultan Qaboos University Medical Journal. 2015; 15 (4): 435-439
en Inglés | IMEMR | ID: emr-173876

RESUMEN

Objectives: This study aimed to assess the distribution of missense mutations in the adrenoceptor beta2 [ADRB2] gene in an Omani cohort. Methods: This study was carried out between May 2014 and March 2015 at the Sultan Qaboos University, Muscat, Oman. Blood samples were taken from 316 unrelated Omani subjects. Genotyping for rs1042713 [c.46A>G, p.Arg16Gly], rs1042714 [c.79C>G, p.Gln27Glu] and rs1800888 [c.491C>T, p.Thr164Ile] polymorphisms was performed by real-time polymerase chain reaction using single nucleotide polymorphism [SNP] genotyping assays. The allelic frequencies of these polymorphisms were estimated on the basis of the observed numbers of specific alleles from the genotype data for male and female subjects. The genotype frequencies for each polymorphism were tested for deviation from the Hardy-Weinberg equilibrium


Results: Gly16 and Glu27 were the most frequent variants found among the cohort [63% and 75%, respectively]. The Ile164 variant was not detected in the study population. There was a significant linkage disequilibrium between the rs1042713 and rs1042714 SNPs [r[2] = 0.209; P

Conclusion: The allelic distribution of variants in this Omani cohort was similar to distributions reported among Caucasian populations


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Polimorfismo Genético , Polimorfismo de Nucleótido Simple , Alelos , Técnicas de Genotipaje , Genotipo
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