Sequencing of 100 common variation sites of 18 deafness susceptibility genes among 16 182 individuals from Dongguan / 中华医学遗传学杂志

OBJECTIVE@#To determine the type and carrier rate of deafness-related variants in Dongguan, China.@*METHODS@#A total of 16 182 subjects were screened. Heel blood samples were collected from newborns, while peripheral venous blood samples were collected from the remainders. For each individual, 100 variations of 18 deafness susceptibility genes were detected.@*RESULTS@#In total 1631 deafness-related variants (including 5 homozygous mutations) were detected, which gave a detection rate of 10.08%. The detection rate of SLC26A4 gene variants was the highest (845 cases, 5.22%), which was followed by GJB2 (673 cases, 4.16%), GJB3 (100 cases, 0.62%), TMC1 (12 cases, 0.07%), and MYO15A (1 case, 0.01%). The detection rate for GJB2 c.235delC variant was the highest (524 cases, 3.24%), which was followed by SLC26A4 IVS7-2A>G variant (270 cases, 1.67%). Thirty three individuals (0.20%) carried two variants at the same time, 7 of them (0.04%) carried compound heterozygous variants of the same gene.@*CONCLUSION@#To expand the range of screening can help with determination of the carrier status and provision of early intervention and genetic counseling for the examinees.

Analysis of hepatitis B surface antigen levels in patients with chronic hepatitis B in Guangzhou / 南方医科大学学报

<p><b>OBJECTIVE</b>To assess the value of quantitative analysis of hepatitis B surface antigen (HBsAg) levels in the diagnosis and therapeutic evaluations in patients with chronic hepatitis B (CHB).</p><p><b>METHODS</b>According to the staging criteria defined by the American Association of Liver Diseases, 96 patients with CHB admitted in Zhujiang Hospital were classified in immune-tolerant (IT), HBeAg-positive hepatitis (EPH), inactive carrier (IC) and HBeAg-negative hepatitis (ENH) phases. Serum HBsAg, HBV-DNA and ALT levels were quantified and their correlations were evaluated in each phase of infection.</p><p><b>RESULTS</b>The mean HBsAg titers (measured in log10U/L) differed significantly between the phases of CHB (4.12 in IT, 4.02 in EPH, 2.85 in EPH, and 3.29 in ENH). The correlation coefficient of HBsAg with HBV-DNA was 0.6828 in IT, 0.5759 in EPH, 0.3280 in IC, and 0.1083 in ENH. Serum HBsAg titers were significantly higher in HBeAg-positive patients than in HBeAg-negative patients. No correlation was found between HBsAg level and ALT in each phase of CHB.</p><p><b>CONCLUSION</b>The median baseline serum HBsAg levels vary between different phases of CHB in Guangzhou, suggesting the value of HBsAg in accurate classification of hepatitis B patients and evaluation of the therapeutic effect and outcomes of the patients.</p>