The polymorphisms of the TPOX locus in two population were studied by PCR technique followed by the denatured PAGE and silver staining.Seven alleles were detected in each population of 100 unrelated Northern Chinese Han individuals and 93 unrelated African(Xhosa)individuals in South Africa respectively.No deviation from the Hardy Weinberg equilibrium was demonstrated.The power of discrimination(DP)and the exclusion probability(EPP)were 0 7978 and 0 4625;0 9141 and 0 6125 respectively.Comparison of gene frequency distribution showed that there is significant difference between different races.In addition,three rare genes were detected in we Africans(Xhosa)individuals.Sequencing proved that the only difference among them was the number of repeat unit in the region amplified by the specific primer pair.It might be due to the unequal exchange between chromosomes which was resulting in the production of a chimera.Our study showed that the TPOX locus has a high discriminating power which is important for the study of forensic medicine and human genetics\;

Objective To study the genetic polymorphisms of DYF155S1 locus in 107 unrelated individuals both in the Han population, China and the Japanese population. Methods MVR-PCR, automated fluorescence detection and DNA sequence analysis were carried out for studying. Results Five types of repeat unit and one type newly named type 6 which was resulted from the T22A substitution on Type 1 were detected. Type 6 is monopolized by Japanese and may be regarded as a racial characteristic genetic marker. The common arrangement of the repeat units was 3134 which were detected at 73.44 % and 67.44 % in the Han and Japanese populations respectively. The abundance of arrangement of 3134 is the character of yellow race. Next to the arrangement of 3134 was the arrangement of 134 which was detected at 17.19% in the Han population while the arrangement of 6134 was detected at 16.28% in the Japanese population. The average number of type 4 unit at the 3'terminal was 8.8 in the Japanese population much lower than 12.5 in the Han population. Conclusion This study implies that DYF155S1 locus is an important geneticmarker with good genetic polymorphisms. The population difference between the Han and the Janpanes is significant.

Objective To investigate the molecular structure, gene expression and detecting methods of some new variant alleles at FUT2 locus. Method We examined four new variant alleles at FUT2 locus using PCR, RFLPs, gene recombination, DNA sequencing and techniques related to gene expression. Results Three missense gene mutations which were C664T, G868A and G760A respectively were found in three New Guinea individuals. Absence of the glycosyltransferase activity in all three enzymes coded by above three missense gene mutations were confirmed by gene expression techniques. Nonsense mutation A660T was found in one Chinese Han individuals. Changing of sequence of endonuclease SacI resulted from C664T and A660T can be detected by RFLP method. Weak peaks of variats might be missed if DNA sequencing was used to detect heterozygotes. RFLP method can't be used to determine specific site of variation within identified sequence of endonuclease. Conclusion All three FUT2 genes resulted from three mutations C664T, G868A, and G760A were non-secretor genes. More than two methods must be used for checking results each other when detect DNA sequence polymorphisms.

Objective To study the genetic polymorphism and population diversity of three SNP loci and their haplotypes on human Y Chromosome. Methods Genetic polymorphisms, population diversity and hap-lotypes of these SNP loci, M4, M9 and M122, on human Y chromosome, in 140 wnrelated individuals from Zang Nationality in China, Japanese, Negroes and white men from southern Africa were studied by using PCR-RFLPs and DNA sequencing analysis. Results No polymorphism was found on M4 locus, each sample was M4A. All samples were wild type. 3 haplotypes were found. In all Negroes there was a wild haplotype of M4A/M9C/M122T. A haplotype of M4A/M 9G/M122T were found in 8 white men. No M122C gene was found. The haplotypes of M4A/M9C/M122T were mainly found in both Japanese and Chinese, The haplotype frequencies in Japanese and Zang population in china were 0.5 and 0.65 respectively. The probability of discrimination power (DP) and the excluding probability of paternity (EPP) were 0.6191 and 0.4994 respectively and the haplotype of M4A/M9C/M122C was absent. There was a remarkable difference (P

0.05). The sequence of five clones from one serum which was identified precore mutation by mPCR-RFLP were all A1896 mutant strains.Another serum identified mixture infection by mPCR-RFLP , one clone was A1896 mutant strain and four were G1896 wild strains.The results of mPCR-RFLP were verified by cloning.Conclusions Comparison with sequencing, the mPCR-RFLP method is simple,accurate and can be used in large-scale surveys and clinical research.

To study the ischemia/reperfusion-induced dynamic changes in PLA 2 in cardiomyocytes and its effect on phospholipids of cardiomyocyte membrane during cardiopulmonary bypass (CPB), and to evaluate the protective effects of two kinds of cardioplegia. The results showed that there was an increase in PLA 2 activity during CPB followed by decreases in the contents of total phospholipids, phosphatidylcholine and phosphatidylethanolamine. During the 6o-min aorta occlusion beriod,there were no obvious changes in the activity of PLA 2 and the contents of total phospholipids, phosphatidylethanolamine and phosphatidylcholine when cardioplegia was used. During early reperfusion, there were a rapid increase in PLA 2 activity accompanied by a rapid decrease in contents of phospholipids.However,after 30~60min reperfusion, the contents of phospholipids for group C, D began to increase and the PLA 2 activity began to decrease. The changes in the contents of phospholipids and the PLA 2 activity in extracorporeal circulation with warm blood cardioplegia group were smaller in magnitude. These results suggested that the myocardial membrane injury was dependent on PLA 2 activation. Warm blood cardioplegia could provide better myocardial protection, and warrant further improvements.

Aim To investigate the effect of low molecular N-trimethyl chloride chitosan(LMTC) on the growth of bovine vascular smooth muscle cells(BVSMCs) in vitro. Methods The antiproliferation activities of LMTC were evaluated in BVSMCs by means of crystal violet staining and MTT assay. The morphological changes of LMTC in BVSMCs were observed under transmission electron microscope. Cell survival ratio influenced by LMTC was assessed by flow cytometer. [WTHZ]Results After BVSMCs were treated by LMTC for 72 h,the growth of the cells was inhibited in vitro and was dependent on concentration; there were some changes of apoptosis by transmission electron microscope and flow cytometer. Conclusion LMTC can inhibit the proliferation of BVSMCs and induce their apoptosis.

Objective To analyze TORCH infection situation in 6 027 cases of pregnant women,puerperae and neonates.Methods The TORCH IgM and IgG was detected by using ELISA for 6 027 cases of pregnant women,puerperae and neonates,and the positive rates of the antibodies to variant TORCH pathogens were analyzed.Results The positive rates of HSVⅠ-IgM,HSVⅡ-IgM,RV-IgM,TOXO-IgM and CMV-IgM were 0.02%,0.02%,0.12%,0.12% and 0.20% respectively.The positive rates of HSVⅠ-IgG,HSVⅡ-IgM,RV-IgM,TOXO-IgM,and CMV-IgM were 63.32%,13.31%,52.83%,12.68% and 58.57% respective-ly.Positive rate of CMV-IgM in neonates was higher than that in pregnant women,the difference was statistically significant(P <0.05).There were totally 28 cases of neonataes detected with acute CMV infection.Conclusion TORCH screening in pregnant women,puerperae and neonates helps the detection of infection disease in perinatal period.

Objective To investigate the value of echocardiography in the diagnosis of interrupted aortic arch (IAA). Methods Forty-three children that diagnosed as IAA by transthoracic echocardiography (TTE) were reviewed. The results of CTA (CT Angiography) and operation also were compared. Results Among the 43 children, 41 was admitted as IAA by operation and 2 were diagnosed as coarctation of aorta. According to the type of IAA, 25 cases were diagnosed as type A, 13 cases were diagnosed as type B, 3 cases were diagnosed as type C. Thirty-ifve cases were diagnosed by TTE correctly, 3 cases were misdiagnosed by TTE, 4 cases were suspected as IAA by TTE and ifnally conifrmed by operation. The accuracy rate was 81%(35/43). Among the 35 deifnite diagnosed cases, corrected typing cases were 30, the accuracy rate was 86%(30/35). The accuracy rate of type A, B, C were 96%(23/24), 64%(7/11) and 0. According to the results of CTA, 40 cases were diagnosed correctly, 1 case was misdiagnosed. The accuracy rate was 98%(40/41). Among the deifnite diagnosed cases, corrected typing rate was the same with operation result. Conclusions TTE is the ifrst choice for the detection of IAA. During TTE, in case the indistinct display of aortic arch, CTA should be used to improve the accuracy rate of IAA.

Objective To compare the value of color Doppler echocardiography in the diagnosis of coarctation of the aorta (COA) in comparison with CT angiography (CTA). Methods Ninety-two patients with COA were retrospectively analyzed that were confirmed by surgery from January 2009 to September 2013 and diagnosed by color Doppler echocardiography and CTA. Results Among 92 COA patients conifrmed by surgery, 87 patients were diagnosed correctly by echocardiography while 91 patients were diagnosed by CTA, and the accuracy of echocardiography and CTA were 95%(87/92) and 99%(91/92), respectively without significant difference (χ2=1.550, P=0.213). According to surgical findings, there were 222 anatomic abnormalities including 110 intra-cardiac, 13 heart-vessel connection and 99 vessel abnormalities. For 110 intra-cardiac abnormalities, echocardiography detected all abnormalities while CTA found 92 with 18 missed including 11 valve or valve ring lesions, 3 patent foramen ovale, 2 atrial septal defect, 1 ventricular septal defect and 1 endocardial cushion defect. The accuracy of echocardiography for intra-cardiac abnormalities was signiifcantly higher than that of CTA (100%, 110/110 vs 84%, 92/110,χ2=18.801, P=0.000). CTA and echocardiography detected all abnormalities of heart-vessel connection. For 99 vessel abnormalities, CTA showed an accuracy of 98%(97/99) with 2 missed lesions including 1 collateral circulation between the aorta and the pulmonary artery and 1 membranous narrow of the aorta, while echocardiography misdiagnosed 1 COA as interruption of aortic arch and missed 15 lesions, including 4 COA, 3 collateral arteries, 2 patent ductus arteriosus, 2 aberrant right subclavian artery, 2 brachiocephalic vein abnormality, 1 partial anomalous pulmonary venous drainage and 1 persistent left superior vena cava. The accuracy of CTA for detection of vessel abnormalities was signiifcantly higher than that of echocardiography (98%, 97/99 vs 84%, 83/99,χ2=11.350, P=0.000). Conclusions Both CTA and echocardiography are effective diagnostic modalities for COA and CTA is superior to echocardiography for detecting vessel anomalies whereas echocardiography is superior to CTA for detecting intra-cardiac abnormalities. The combination of both modalities will provide more accurate information for clinical diagnosis.