Experimental training of medical genetics based on typical diseases / 中华医学教育探索杂志

For medical caliber education and training research-oriented medical students, experimental training of medical genetics was innovated based on typical diseases. In this course, traditionally single experiments were combined in a main line and formed a whole system. Thus, the comprehensive quality and innovation ability of students were trained, as were the practical skills.

Expression of hGM-CSF in transformed silkworm BmN cells mediated by non-transposon vector / 生物工程学报

To develop the stable transformants of the silkworm (Bombyx mori) BmN cells that could continuously express the exogenous gene based on a non-transposon vector, an expression cassette containing human granucyto-macrophage colony-stimulating factor (hGM-CSF) gene driven by ie-1 promoter from B. mori nucleopolyhedrovirus was inserted into pIZT-V5-His to form a recombinant vector pIZT-IE-hGM-CSF, followed by transfecting the constructant into BmN cells, the stable ie-hGM-CSF cell lines were obtained after being selected with Zeocin. PCR result using the genomic DNA of the transformed BmN cells as template illustrated a specific fragment of ie-hGM-CSF, and Western blotting analysis using an antibody against hGM-CSF demonstrated a specific band with a molecular weight of 22 kDa in the transformed cells, meanwhile, the expression level of hGM-CSF determined by ELISA was about 2 814.7 pg in 10(6) transformed BmN cells.

The clinical research about the relationship between serum levels of 8-hydroxy-deoxyguanosine (8-OHdG) of type 2 diabetes patients and its macrovascular complications / 中国医师杂志

Objective To investigate the role of oxidative stress in type 2 diabetes patients with macrovascular complications. Methods Serum levels of 8-hydroxy-deoxygnan osine (8-OHdG) and hemoglobin Alc (HbAlc) in 32 cases of type 2 diabetic patients with macrovascular complications and 46 cases of patients without complications were determined. 8-OHdG was detected by enzyme linked immu-nosorbent assay (ELISA). Results The level of 8-OHdG (2.93±1.37) ng/mL in type 2 diabetic patients with macrovascular complica-tions was higher than those without complications, whose 8-OHdG level was (2.67±1.30)ng/mL, but the difference was not significant(P>0.05). Compared with all kinds of macrovascular complications in patients, the 8-OHdG levels were increased, but the difference were not significant (P>0.05). Compared with patients without complications, the duration and age of the patients with macrovascular compli-cations also increased significantly (P<0.05), but the HbAlc levels were not statistical difference between them (P>0.05). Spearman regression analysis showed that 8-OHdG level was positively correlated with the duration (r=0.33, P<0.05), while the age and HbAlc level had no obvious correlation (P>0.05). Conclusion The role of oxidative stress may not be the important reason in type 2 diabetes with macrovascular complications, but the duration and age of the patients may be closely related with the disease.

Mutation analysis of the CHD7 gene in patients with congenital heart disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the germline mutations of the CHD7 gene and their roles in patients with congenital heart disease (CHD).</p><p><b>METHODS</b>Genomic DNAs extracted from peripheral blood were subjected to screen mutations in CHD7 gene by denaturing high performance liquid chromatography (DHPLC) followed by DNA sequencing of aberrant peaks in 67 CHD patients and 100 healthy control. Case-control study and bioinformatic analysis were utilized to explore the potential functional roles of the variations detected.</p><p><b>RESULTS</b>Seven kinds of single nucleotide substitution were detected in the CHD patients in different introns of the CHD7 gene. Among them, IVS11+ 127A to G and IVS12+ 21T to G were rare variations and the allele frequencies of both were 0.0075; while IVS2+ 34G to A, IVS4+ 39G to A, IVS12-5T to C and IVS16+ 51C to A were the single nucleotide polymorphisms and the allele frequency was 0.2635, 0.2156, 0.1505 and 0.3636 respectively. The frequency of IVS12-5T to C in the CHD group was significantly lower than that in the control group (5.42%versus 9.57%, P< 0.05). The variant of IVS14-35C to G was only detected in patients with CHD. Bioinformatic analysis showed that IVS12-5T to C might increase exon splicing ability comparing with the wild-type sequence.</p><p><b>CONCLUSION</b>The CHD7 gene mutation may not be the main reason for sporadic congenital heart disease, whereas the single nucleotide polymorphism of IVS12-5T to C might play a protective role in the onset of this disease.</p>