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Thu Hien Nguyen,Thi Thanh Ngan Nguyen,Bac Viet Le,Ngoc Minh Thanh,Thi Kim Lien Nguyen,Van Hai Nong,Huy Hoang Nguyen 한국유전학회 2017 Genes & Genomics Vol.39 No.3
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by ritualistic- repetitive behaviors and impaired verbal and non-verbal communication. Boys are more likely to be diagnosed with ASD than girls. Genetics have been shown to play a key role in the etiology of autism. Many genes were found to be implicated in the inheritance of idiopathic autism. Analysis of mutation abnormalities associated with autism contributes significantly to the identification of autism candidate genes. Whole-exome sequencing has been shown as an application of the next generation sequencing technology used to determine the variations of all coding regions, or exons of the known genes. In the present study, we have found two novel heterozygous missense mutations (p.L111P and p.R3048C) on the RYR3 gene, which was located in the autism susceptibility region (15q14-q15) in a 9-year-old boy with ASD. Therefore, the sequence missense mutations provide the first suggestive link between a genetic abnormality in the RYR3 gene and a neurodevelopmental disorder.
( Minh Ngoc Nghiem ),( Bac Van Nguyen ),( Son Thai Nguyen ),( Thuy Thi Bich Vo ),( Hai Van Nong ) 한국미생물 · 생명공학회 2015 Journal of microbiology and biotechnology Vol.25 No.5
Tuberculosis (TB) is the most common mycobacterial infection in developing countries, requiring a rapid, accurate, and well-differentiated detection/diagnosis. For the rapid detection and discrimination of Mycobacterium tuberculosis complex (MTC) from nontuberculous mycobacteria (NTM), a novel, simple, and primer-combined single-step multiplex PCR using three primer pairs (6110F-6110R, 1081F-1081R, and 23SF-23SR; annealing on each of IS6110, IS1081, and 23S rDNA targets), hereafter referred to as a triplex PCR, has been developed and evaluated. The expected product for IS6110 is 416 bp, for IS1081 is 300 bp, and for 23S rDNA is 206 bp by single PCR, which was used to verify the specificity of primers and the identity of MTC using DNA extracted from the M. tuberculosis H37Rv reference strain (ATCC, USA) and other mycobacteria other than tuberculosis (MOTT) templates. The triplex PCR assay showed 100% specificity and 96% sensitivity; the limit of detection for mycobacteria was ~100 fg; and it failed to amplify any target from DNA of MOTT (50 samples tested). Of 307 blinded clinical samples, overall 205 positive M. tuberculosis samples were detected by single PCR, 142 by conventional culture, and 90 by AFB smear methods. Remarkably, the triplex PCR could subsequently detect 55 positive M. tuberculosis from 165 culture-negative and 115 from 217 AFB smear-negative samples. The triplex PCR, targeting three regions in the M. tuberculosis genome, has proved to be an efficient tool for increasing positive detection/ discrimination of this bacterium from clinical samples.
New Dibenzocyclooctadiene Lignan from Kadsura induta and Their Cytotoxic Activities
Pham, Thi Hong Minh,Do, Tien Lam,Nguyen, Quyet Tien,Nguyen, Ngoc Tuan,Vu, Phuong Nhung,Nong, Van Hai,Phan, Van Kiem,Nguyen, Xuan Nhiem,Chau, Van Minh,Park, SeonJu,Kim, Seung Hyun Korean Chemical Society 2014 Bulletin of the Korean Chemical Society Vol.35 No.6