1.Application and Evaluation of Reverse Dot Blot (RDB) Hybridization Assay for HBV YMDD Motif Mutants
Taisong ZHANG ; Ruihua DONG ; Jianfang LI ; Bingsheng LIN ; Wanjun YONG ; Shouwang HU ; Ming LI ; Xinyu ZHOU
Journal of Sun Yat-sen University(Medical Sciences) 2009;30(4):428-432
[Objective] To detect HBV YMDD motif mutants using RDB hybridization assay in lamivudine treated patients with chronic hepatitis B virus infection,as well as to evaluate the detection capability for clinical application.[Method] HBV DNA was extracted from serum for a total of 242 cases,after the PCR amplification,the hybridization was performed.By comparing the RDB assay results to sequence analysis,the concordant results were analyzed.The sensitivity and detection capability for mixed infection samples are also evaluated.[Results] There are 236 of concordant results for RDB assay and sequencing were obtained in a total of 242 cases,accounting for 97.5%.For all of the cases,there are 58 cases with coexisting mutant viruses in wild type viruses,accounting for 24%.The sensitivity of RDB hybridization assay for HBV YMDD motif mutants was 103 IU/mL,and approximately 10% mutant type strains can be detected from a mixed infection sample.[Conclusion] The RDB hybridization assay for HBV YMDD motif mutants is a simple,accurate,and economic method and it may be a promising tool for clinical application.
2.Case report of Dentici-Novelli neurodevelopmental syndrome caused by a novel mutation in the ZNF526 gene and literature review
Tiantian ZHANG ; Xiubo DU ; Lianchao ZHU ; Huawei LI ; Hong ZHENG ; Bingxiang MA ; Xilong DU ; Taisong LI
Chinese Journal of Applied Clinical Pediatrics 2024;39(8):613-616
This paper reports the clinical characteristics and ZNF526 gene mutation in a child with Dentici-Novelli neurodevelopmental syndrome, who was admitted to the Department of Pediatrics at the First Affiliated Hospital of Henan University of Traditional Chinese Medicine in June 2021, and reviews the relevant literature.The male child, 5 years and 1 month old, presented with distinctive facial features, intellectual and motor retardation, language development delays, scattered Mongolian spots on the back and buttocks, brain tissue involvement, visual impairment, and epilepsy.The whole-exome sequencing of the family revealed that the child suffered compound heterozygous mutations, c.1430G>T and c. 475C>T, in the ZNF526 gene.At present, 7 mutation sites in the ZNF526 gene have been reported globally to be associated with neurodevelopmental disorders, and the 2 mutations in this case have not been reported in the literature, broadening the phenotype and mutation spectrum of this disease.