Rapid molecular diagnosis of the Gilbert's syndrome-associated exon 1 mutation within the UGT1A1 gene.

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.

Translation and validation of the Chinese-Cantonese version of the Exercise of Self-Care Agency Scale.

BACKGROUND: Effective self-care is important in the management of dysmenorrhea. Yet measures of adolescents' capabilities or self-care agency to exercise self-care to cope with dysmenorrhea are limited in the Chinese population. OBJECTIVES: The aims of this study were to translate the Exercise of Self-Care Agency Scale (ESCAS) from English into Chinese-Cantonese, and to evaluate its reliability and validity in the Chinese adolescent girls with dysmenorrhea. METHODS: This study consisted of three phases. In phase 1, the ESCAS was translated into Chinese-Cantonese using Brislin's (1986) translation and back-translation method, the semantic equivalence and content validity were assessed. In phase 2, a cross-over design was used to assess the translation adequacy of the Chinese-Cantonese version. In phase 3, the psychometric properties of the Chinese-Cantonese version were tested with a convenience sample of 477 adolescent girls recruited from three secondary schools. The reliability was assessed by internal consistency and test-retest reliability. The construct validity was tested using exploratory factor analysis. RESULTS: The semantic equivalence and content validity index of the Chinese-Cantonese version of ESCAS was satisfactory. Results also indicated that the Chinese-Cantonese version had a high level of equivalence with the original English version and demonstrated a high internal consistency and test-retest reliability. Exploratory factor analysis revealed the presence of four factors supporting the conceptual dimension of the original instrument. CONCLUSION: The current study provides initial psychometric properties of the Chinese-Cantonese version of the ESCAS and supports it as a reliable and valid instrument to measure self-care agency in adolescent girls with dysmenorrhea. It provides health care professionals with a useful tool to assess the extent to which adolescent girls take action towards their problem of dysmenorrhea.