RESUMO
Gilbert's syndrome is suspected in patients with unconjugated hyperbilirubinemia caused by decreased activity of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene in the absence of abnormal liver function and hemolysis. The major genetic variants underlying Gilbert's syndrome are TATA-box repeats of the promoter region and exon 1 G211A of the coding region, particularly in Asians. The efficacy of DNA melting curve analysis, however, has not been established for the G211A mutation. For rapid and accurate molecular diagnosis of Gilbert's syndrome, DNA melting curve analysis was evaluated for its genotyping capability not only for TATA-box repeats of the UGT1A1 promoter, but also for G211A of UGT1A1 exon 1. TA repeats within the TATA-box sequence and the exon 1 G211A mutation of the UGT1A1 gene were analyzed by DNA melting curve analysis. To evaluate the assay reliability, direct sequencing or polyacrylamide gel electrophoresis was used as a comparative method. All homozygous and heterozygous polymorphisms of A(TA)7TAA within the TATA-box allele and of exon 1 G211A mutants of the UGT1A1 gene were successfully identified with DNA melting curve analysis. DNA melting curve analysis is, therefore, an effective molecular method for the rapid diagnosis of Gilbert's syndrome, as it detects not only TATA-box polymorphisms but also the exon 1 G211A mutation located within the UGT1A1 gene.
Assuntos
Doença de Gilbert/genética , Glucuronosiltransferase/genética , Patologia Molecular , Alelos , Povo Asiático/genética , Éxons , Genótipo , Doença de Gilbert/diagnóstico , Humanos , Mutação , Desnaturação de Ácido Nucleico/genética , Polimorfismo Genético , Regiões Promotoras Genéticas , TATA Box/genéticaRESUMO
Outbreaks of influenza due to the virus A/Hong Kong/1/68 (H3N2) began in 1968 and are still occurring. The haemagglutinin of this virus is different from that of the A/Singapore/1/57 virus (the "Asian" strain) but the neuraminidase antigens are the same. Between 1968 and 1971 only minor antigenic "drift" in the haemagglutinin was noted, but in recent months 2 isolates have been identified in which considerable "drift" has occurred in the haemagglutinin and in the neuraminidase antigens. One, A/Hong Kong/5/72 (H3N2), was first detected in outbreaks in Hong Kong between November 1971 and January 1972 and was predominant there and in Korea but did not become widely disseminated. The second strain, A/England/42/72 (H3N2), has been isolated in winter outbreaks in the southern hemisphere and now appears to be the predominant strain in the northern hemisphere. The characteristics of the strains are described.