Genetic testing and analysis of 2 cases of trisomy 11 mosaicism / 南方医科大学学报

Trisomy 11 mosaicism is clinically rare, for which making diagnostic and treatment decisions can be challenging. In this study, we used noninvasive prenatal testing, chromosome karyotype analysis, chromosome microarray analysis, copy number variation sequencing and fluorescence in situ hybridization for detecting trisomy 11 mosaicism in two cases and provided them with genetic counseling. In one of the cases, the fetus with confined placental mosaicism trisomy 11 presented with severe growth restriction and a placental mosaic level of 44%, and pregnancy was terminated at 25+3 weeks of gestation. In the other case with true low-level fetal mosaicism of trisomy 11, the pregnancy continued after exclusion of the possibility of uniparental disomy and structural abnormalities and careful prenatal counseling. The newborn was followed up for more than one year, and no abnormality was found. Noninvasive prenatal testing is capable of detecting chromosomal mosaicism but may cause missed diagnosis of true fetal mosaicism. For cases with positive noninvasive prenatal testing but a normal karyotype of the fetus, care should be taken in prenatal counseling and pregnancy management.

Quantile regression model-based analysis of influencing factors on quality of life of inpatients with type 2 diabetes / 中华疾病控制杂志

Objective This study aimed to understand the status of health-related quality of life (HRQOL) among the hospitalized patients with type 2 diabetes (T2DM) in Yinchuan, so as to analyze the factors associated with HRQOL of hospitalized T2DM patients. The applied value of quantile regression in analysis of HRQOL was explored. Methods A cross-sectional study was conducted to obtain data of 480 hospitalized T2DM patients. The Chinese Normal Audit of Diabetes-Dependent Quality of Life (CN-ADDQoL) scale was used to assess the HRQOL status of patients. Traditional linear regression and quantile regression were used to analyze the influencing factors of HRQOL in hospitalized T2DM patients. Results The average weight impact (AWI) of hospitalized T2DM patients was-2.7(-3.6,-1.9), and the items with lowest score were in the dimension of “work life” (AWI,-4(-6,-2)), “eat” AWI,-4(-6,-2)) and “Anything of Drinking” (AWI,-4(-6,-2)). Linear regression results showed that 18-59 years old or the renal and circulatory complications were risk factors for HRQOL in T2DM hospitalized patients. Quantile regression further found that the better the quality of life, the weaker the effect on age (β1=0.931, P1=0.001; β2=0.699, P2=0.001; β3=0.370, P3=0.012; β4=0.313, P4=0.035), the rural residents (β5=-0.421, P5<0.001), insulin treatment (β3=-0.325; P3=0.024), the ocular (β1=-0.546, P1=0.008; β5=-0.352, P5=0.008), renal (β5=-0.358, P5=0.025) and circulatory complications (β1=-0.803, P1<0.001; β5=-0.302, P5=0.011) had effect on HRQOL at different quantiles. Conclusions Age, urban and rural residence, whether receive insulin therapy and complications are the influencing factors of HRQOL in hospitalized T2DM patients. The quantile regression model can show different factors affecting the quality of life of patients at different quintiles. The results from quantile regression can provide the targeted and reasonable recommendations for improvement of HRQOL of T2DM patients.

Survey of the evolutionary characteristics of influenza H1N1 hemagglutinin gene HA1 in 2000-2009 / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the global evolutionary characteristics of hemagglutinin gene HA1 of influenza H1N1 infecting different species during 2000-2009.</p><p><b>METHODS</b>The target sequences were downloaded from NCBI and analyzed using bioinformatic software to construct the phylogenetic tree.</p><p><b>RESULTS</b>The HA1 amino acid sequences of influenza H1N1 contained four mutated antigenic sites and receptor-binding sites, and the novel influenza virus shared most of the mutated amino acid sites with swine H1N1 influenza virus.</p><p><b>CONCLUSION</b>The HA1 gene of novel influenza virus might originate from the early swine H1N1 influenza virus from North America, and in the evolutionary process, a number of important sites of HA1 gene mutated to result in the outbreak of influenza.</p>

Construction of a recombinant lentiviral expression vector carrying carcinoembryonic antigen gene and its expression in dendritic cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To construct a lentiviral expression vector of human carcinoembryonic antigen (CEA), and identify its expression in dendritic cells (DCs).</p><p><b>METHODS</b>Human CEA-encoding sequence was amplified, purified, ligated with lentiviral vector plasmid pLentiGFP and verified by sequencing. The verified recombinant vector plasmid (pLentiGFP-CEA), the packaging plasmid p 8.2 and pVSV-G were transfected into 293T cells by Lipofectamine(TM) 2000 reagent. The supernatant of the cultured 293T cells was collected to infect the DCs. The expression of CEA in the transfected DCs was assayed by RT-PCR and Western blotting.</p><p><b>RESULTS</b>CEA lentiviral vector was highly expressed in the transfected DCs as observed using fluorescence microscope 48 h after the the transfection. The human CEA gene was successfully amplified by RT-PCR with a length of about 2100 bp. Western blotting also showed CEA expression in the transfected DCs.</p><p><b>CONCLUSION</b>The human CEA lentiviral expression vector has been successfully constructed and the functional CEA protein can be expression in the transfected DCs. This facilitates further studies of the function of CEA at the molecular level.</p>

Expression and location of UBAP1 protein associated with nasopharyngeal carcinoma / 中南大学学报(医学版)

OBJECTIVE@#To analyze the expression and location of coding protein of UBAP1 gene and to understand the relationship between the expression pattern of the protein and cell carcinogenesis.@*METHODS@#Bioinformatics was used to analyze the protein character to provide an available clue of subsequent research. The codon frame cDNA was amplified by PCR, and subcloned into enhance green fluorescence protein (EGFP) of pEGFP-C2. The recombinant plasmid was transfected into HNE1 cells. The expression of coding protein was observed by fluorescence microscopy.@*RESULTS@#The expressed GFP-fusion protein generated striking green fluorescence in the cytoplasm in HNE1 cells. EGFP/UBAP1 was expressed and existed mainly in the nuclear, especially accumulated on the nuclear envelope.@*CONCLUSION@#The expression difference in HNE1 might be related to the carcinogenesis of NPC.