RESUMO
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound. We hypothesise that this phenotypic variability is at least partly caused by the influence of modifier genes. By performing a whole-genome association (WGA) study on 35delG homozygotes, we sought to identify modifier genes. The association study was performed by comparing the genotypes of mild/moderate cases and profound cases. The first analysis included a pooling-based WGA study of a first set of 255 samples by using both the Illumina 550K and Affymetrix 500K chips. This analysis resulted in a ranking of all analysed single-nucleotide polymorphisms (SNPs) according to their P-values. The top 250 most significantly associated SNPs were genotyped individually in the same sample set. All 192 SNPs that still had significant P-values were genotyped in a second independent set of 297 samples for replication. The significant P-values were replicated in nine SNPs, with combined P-values between 3 x 10(-3) and 1 x 10(-4). This study suggests that the phenotypic variability in 35delG homozygous patients cannot be explained by the effect of one major modifier gene. Significantly associated SNPs may reflect a small modifying effect on the phenotype. Increasing the power of the study will be of greatest importance to confirm these results.
Assuntos
Conexinas/genética , Homozigoto , Mutação , Fenótipo , Conexina 26 , Variação Genética , Estudo de Associação Genômica Ampla , Perda Auditiva/genética , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Objective To establish a method for determining the content of Naringin and Hesperidin in Zengshi Keli by HPLC. Methods The Kromasil C18 column with acetonitrile-water-phosphoric acid (20∶80∶0.02) as the mobile phase was used. The flow rate was 1.0 mL/min, the detective wavelength was 283 nm, the temperature of column is 35 ℃. Results The calibration curve were linear in the range of 0.178 5～0.892 5 ?g for Naringin and 0.073 68～0.368 4 ?g for Hesperidin (r=0.999 9) respectively. The average recovery was 97.24% (RSD=1.21%) and 96.95% (RSD=1.49%) respectively. Conclusion The method was simple, accurate, reproducible and can be used for quality control of Zengshi Keli.
RESUMO
OBJECTIVE:To establish the Microbial limit test(MLT) for Danggui funing drop pills.METHODS:The recovery rates of 5 tested strains treated by Danggui funing drop pills were detected and the MLT method for the control bacteria was validated.RESULTS: Danggui funing drop pills exhibited strong inhibitory effect on staphylococcus aureus and bacillus subtilis,but showed no effect on escherichia coli,candida albicans and aspergillus niger.CONCLUSION: By membrane-filter procedure,the antibacterial effect of Danggui funing drop pills can be eliminated and the bacterial count can be conducted;however,by routine method,the test of control bacteria is feasible.
RESUMO
OBJECTIVE:A fluorospectrophotometric method was established for the determination of lomefoxacin hydrochloride in injection and capsule.METHODS:Samples were diluted with distilled water and detected by fluorospectrophotometry at excitation wavelength of 285nm and emission wavelength of 445nm.RESULTS:Linear relationship was found in the lomefloxacin hydrochloride concentrations ranging from 0.5?g/ml to 2.5?g/ml.The correlation coefficient was 0.9 998.The recoveries of lomefloxacin in injection and capsule were 99.7%(RSD=0.6%,n=5) and 99.6%(RSD=0.8%,n=5),respectively.CONCLUSION:The method is simple,accurate and sensitive and can be used to determine lomefloxacin hydrochloride in injection and capsule.
