GFPT1 is the key enzyme in the hexosamine biosynthesis pathway, and mutations in GFPT1 cause defective glycosylation in the proteins of the neuromuscular junction. Identification of LGM with TAs among patients with congenital myasthenic syndrome is important because treatment with cholinesterase inhibitors can produce symptomatic improvement.
Chronic lymphocytic leukemia (CLL) is extremely rare in Asian countries and there has been one report on genetic changes for 5 genes (TP53, SF3B1, NOTCH1, MYD88, and BIRC3) by Sanger sequencing in Chinese CLL. Yet studies of CLL in Asian countries using Next generation sequencing have not been reported. We aimed to characterize the genomic profiles of Korean CLL and to find out ethnic differences in somatic mutations with prognostic implications. We performed targeted sequencing for 87 gene panel using next-generation sequencing along with G-banding and fluorescent in situ hybridization (FISH) for chromosome 12, 13q14.3 deletion, 17p13 deletion, and 11q22 deletion. Overall, 36 out of 48 patients (75%) harbored at least one mutation and mean number of mutation per patient was 1.6 (range 0–6). Aberrant karyotypes were observed in 30.4% by G-banding and 66.7% by FISH. Most recurrent mutation (>10% frequency) was ATM (20.8%) followed by TP53 (14.6%), SF3B1 (10.4%), KLHL6 (8.3%), and BCOR (6.25%). Mutations of MYD88 was associated with moderate adverse prognosis by multiple comparisons (P = 0.055). Mutation frequencies of MYD88, SAMHD1, EGR2, DDX3X, ZMYM3, and MED12 showed similar incidence with Caucasians, while mutation frequencies of ATM, TP53, KLHL6, BCOR and CDKN2A tend to be higher in Koreans than in Caucasians. Especially, ATM mutation showed 1.5 fold higher incidence than Caucasians, while mutation frequencies of SF3B1, NOTCH1, CHD2 and POT1 tend to be lower in Koreans than in Caucasians. However, mutation frequencies between Caucasians and Koreans were not significantly different statistically, probably due to low number of patients. Collectively, mutational profile and adverse prognostic genes in Korean CLL were different from those of Caucasians, suggesting an ethnic difference, while profile of cytogenetic aberrations was similar to those of Caucasians.
Selective retrieval of sequence-verified oligonucleotides (oligos) from next-generation sequencing (NGS) flow cells, termed megacloning, promises accurate and reliable gene synthesis. However, gene assembly requires a complete collection of overlapping sense and nonsense oligos, and megacloning does not typically guarantee the complete production of sequence-verified oligos. Therefore, missing oligos must be provided via repetitive rounds of megacloning, which introduces a bottleneck for scaled-up efforts at gene assembly. Here, we introduce the concept of high-depth tiled oligo design to successfully utilize megacloned oligos for gene synthesis. Using acquired oligos from a single round of the megacloning process, we assembled 72 of 81 target Cas9-coding gene variants. We further validated 62 of these cas9 constructs, and deposited the plasmids to Addgene for subsequent functional characterization by the scientific community. This study demonstrates the utility of using sequence-verified oligos for DNA assembly and provides a practical and reliable optimized method for high-throughput gene synthesis.
ObjectiveAlcohol-induced blackout (blackout) is a typical early symptom of cognitive impairment caused by drinking. However, the first onset age of blackout or the duration after onset of blackout has not been directly compared in previous studies. The purpose of this study was to investigate the differences in cognitive function to the first start age of blackouts and their duration.MethodsThirty-one male subjects were included in this study. Their age at the first blackout and the duration after the onset of blackout were investigated. Neuropsychological tests were conducted to determine their attention, memory, and executive function. Subjects were divided into three groups according to their age of the first onset blackout (group O1, < 20 years; group O2, 21–39 years; and group O3, > 40 years). Subjects were also divided into three groups by duration after the onset of blackout (P1, < 10 years; P2, 10–29 years; and P3, > 30 years). We then examined differences in neurocognitive function among these groups.ResultsO1 tended to have a lower memory score than O2 (F = 3.28, p = 0.053). Significant differences were observed in attention and executive function between groups P1 and P3 (Digit Span_backward: F = 6.07, p < 0.05; visual span_forward: F = 4.19, p < 0.05; executive intelligence quotient: F = 3.55, p < 0.05).ConclusionGreater memory impairment was detected in subjects having an earlier age of the first blackout. The longer the duration after the onset of blackout, the more impaired their attention and executive function skills.
Background The purpose of this study is to investigate the drinking behavior of Korean pregnant women in 2017 and to compare the changes of drinking status with the results of the research conducted in 1997 and 2008. Methods Pregnant women at one obstetrics and gynecology hospital and one university hospital were the subjects of the study. They were filled out questionnaire. Results The rate of positive responses to CAGE increased 16.0% in 2008 and 16.3% in 2017 compared to 11.8% in 1997 (P = 0.046). Blackout history rate was keep increasing from 1997 to 2017 (8.8% versus 27.7% versus 36.3%, P < 0.001). The rate of family history of alcohol was nearly doubled in 2017 (30.3%) compared to 1997 (17.6%) and 2008 (16.3) (P < 0.001). The rate of pregnant women who drink alcohol during pregnancy decreased from 57.5% in 1997 to 39.5% in 2008 and decreased to 25.6% in 2017 (P < 0.001). The rate of pregnant women who drink alcohol after knowing the pregnancy was decreased in 2017 (6.9%) compared to 2008 (23.5%) (P < 0.001). Conclusion According to the results of the study in 2017, the rate of pregnant women who drink alcohol after pregnancy was decreased compared to 1997 and 2008. However drinking behavior severity has increased in 2017.
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