Efficacy and initial clinical evaluation of optical genome mapping in the diagnosis of structural variations / 中华预防医学杂志

To investigate the efficacy and value of optical genome mapping (OGM) in detecting chromosomal structural variations. In a clinical study about high-precision analysis of genomic structural variation for complex genetic diseases, a retrospective study was performed on the cases with karyotyping at the department of Obstetrics and Gynecology, and Endocrinology of Peking Union Medical College Hospital from January to December 2021. Ten cases with abnormal karyotype was detected by OGM. Partial cases were verified by fluorescence in situ hybridization (FISH), SNP array or CNV-seq. Results of ten cases, nine were detected with abnormality by OGM, including unbalanced chromosomal rearrangements (n=3), translocation (n=5) and paracentric inversion (n=1), and the results were in concordance with other standard assays. However, one case with breakpoint and reconnected at centromere has not been detected. In conclusion, ten samples were comprehensively analyzed by karyotyping, FISH, SNP array or CNV-seq, and OGM, and results demonstrated that optical genome mapping as a new technology can not only detect unbalanced rearrangements such as copy number variants as well as balanced translocations and inversions, but more importantly, it can refine breakpoints and orientation of duplicated segments or insertions. So it can contribute to the diagnosis of genetic diseases and prevent birth defect. However, the current technology is not yet capable of detecting breakpoints of balanced structural variations lying within unmapped regions.

Attentional bias processing mechanism of emotional faces: anger and happiness superiority effects / 生理学报

Emotional information is critical for our social life, in which attentional bias is now a focus in the study on attention. However, the attentional bias processing mechanism of emotional faces still arouses huge controversy. Using similar experimental paradigms and stimuli, the published studies have yielded contradictory results. Some studies suggest that angry faces could automatically stimulate attention, that is, there is an anger superiority effect. On the contrary, lines of growing evidence support the existence of a happiness superiority effect, suggesting that the superiority effect is shown in happy faces rather than angry faces. In the present paper, the behavioral and neuroscience studies of anger and happiness superiority effects are combined. It is found that there are three major reasons for the debate over the two types of effects, which include the choice of stimulus materials, the difference of paradigm setting, and the different stages of emotional processing. By comparatively integrating the previous published results, we highlight that the future studies should further control the experimental materials and procedures, and investigate the processing mechanism of anger and happiness superiority effects by combining cognitive neurobiology means to resolve the disputes.

Antibiotic-resistant mechanisms of plasmid pA1137 carrying aminoglycoside resistance gene aacC2 / 军事医学

Objective To achieve detailed genomic characterization and investigate the antibiotic-resistant mechanisms of plasmid pA1137 carrying the aminoglycoside resistance gene aacC2.Methods Antibiotic-resistant genes were deter-mined by PCR.Conjugation experiments were performed to verify the transferability of plasmid pA 1137.The minimum in-hibitory concentration(MIC)values of bacterial strains were tested with microdilution method.The genetic background, mobile elements and antibiotic resistance mechanisms of pA 1137 were determined using a whole genome sequencing meth-od.Results Both carbapenem-resistant gene blaIMP-8and aminoglycoside-resistant genes aacC2 and aacA4 were carried by A1137 isolated from Enterobacter cloacae(ECL).aacC2 was located in plasmid pA1137 while the other two resistant genes were observed in chromosomes.Plasmid pA1137 was an IncFⅡplasmid,whose total length was 68.97 kb,and GenBank accession number was MF190369.Plasmid pA1137 contained multiple replicons and intact conjugative transfer regions,so it could be transferred into ECL through conjugation experiments and confer corresponding antibiotic resistance to the transconjugant A1137-EC600.Conclusion IncFⅡ plasmid pA1137 has a single accessory region, the first reported Tn5403-based aacC2-tmrB-related region,which can cause stable inheritance and mediate the resistance to aminoglycoside antibiotics in ECL A1137.