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Objective To study the polymorphism of glucocerebrosidase ( GBA) gene of N370S, V394L, L444P, R120W, R359X, R496H, R353W and RecNcil in the patients with Parkinson's disease ( PD) in Han, Uygur and Kazak in Xinjiang and to investigate the relationship between GBA gene polymorphism and Parkinson's disease.Methods GBA gene polymorphism was analyzed by improved multiplex ligation detection reaction technique in 294 sporadic PD patients (100 cases of Uygur, 134 cases of Han, 60 cases of Kazak) and 305 healthy controls (109 cases of Uygur, 122 cases of Han, 74 cases of Kazak) in Xinjiang area.Results There were two L444P loci polymorphisms that were heterozygous mutations in 294 cases of PD patients and the mutation frequency was 0.7%.Three hundred and five cases of control group did not show L 444P polymorphism.There were no significant differences in L 444P genotype and allele frequency distribution between PD group and control group ( AA:99.3%vs 100.0%, GA:0.7%vs 0, P>0.05;G:0.3%vs 0, A:99.7%vs 100.0%, P>0.05);L444P genotype and allele frequency distribution in Han and Uygur patients with PD showed no significant differences ( AA:99.3% vs 99.0%, GA:0.7%vs 1.0%, P>0.05;G:0.4%vs 0.5%, A:99.6%vs 99.5%,P>0.05);N370S, V394L, R120W, R359X, R496H, R353W, RecNcil loci polymorphisms were not found in the PD and control groups.Conclusion The GBA gene of N370S, V394L, R120W, R359X, R496H, R353W, RecNcil showed no polymorphism in Xinjiang Han and Uygur population and there was no association of L 444P polymorphism with Parkinson's disease in Han and Uygur populations in Xinjiang .
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Objective To clone and express cathepsin B gene of Echinococcus granulosus(EgCatB)and analyze EgCatB protein by using bioinformatics tools and online databases. Methods The total RNA of E. granulosus was extracted and reverse?ly transcribed into cDNA as the template sequence for PCR. The EgCatB gene was cloned by using the In?Fusion PCR cloning method and expressed by a wheat germ cell?free system,and then the recombinant protein was identified by Western blotting. The signal peptide,transmembrane helices and subcellular location of the EgCatB sequence were predicted by the online soft?ware SignalP 4.1,TMHMM sever v. 2.0 and TargetP 1.1 respectively. Subsequently,the homologue sequence and conserved sites were aligned by using BLASTP and GeneDoc software. Finally,the structures and the glycosylation modification site of the EgCatB encoding protein were analyzed and predicted in turn by ProtParam,SMART,Predictprotein,Swiss?model,NetOGlyc 4.0 and NetNGlyc 1.0 approaches. Results The EgCatB gene was successfully amplified from cDNA of E. granulosus and ex?pressed in the soluble fractions. The molecular weight of the expressed protein was estimated 35 kDa. The bioinformatics analysis revealed that EgCatB was a classical secreted protein containing a Pept_C1 domain. The homology analysis indicated that the amino acid sequence of EgCatB was highly conserved in the active enzyme sites. The protein structure prediction showed a cata?lytic active center was formed through Gln106,Cys112,His282 and Asn302. It was found that there were nine O?glycosylation sites in the EgCatB sequence,but no N?glycosylation sites. Conclusions The EgCatB gene is cloned and expressed successfully,and the recombinant protein is analyzed by bioinformatics approaches and structure predication. The study provides useful informa? tion for further functional study of the EgCatB protein.
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Objective To find out current distribution of Oncomelania snails and Schistosoma infection in snails in Zhejiang Province, so as to improve the project of schistosomiasis control. Methods Investigation spots were selected by stratified cluster sampling method, 100 villages of 34 counties were selected from 7 106 villages of 55 counties as survey spots. Synchronously systematic and environmental samplings were used for the survey. Snails were dissected to determine the infection status and spots with sham snails were set to assess the quality of the survey. Results The result showed that snails were found in 223 strips, 1 572 frames and 73 300 m 2 area in 32 villages of 21 counties. Snails were found in an area covering 72 640 m 2 in 29 villages of 18 counties in hilly region, which accounted for 99.1% of total snail habitats. The significantly larger area with snails was revealed in hilly region than that in water network region (t=3.04, P
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Objective To understand the differences of residents'compliance through stool and serum examinations on schistosomiasis and evaluate the effect of schistosomiasis surveillance and control in Jiangshan City.Methods The local residents and floating population from 9 villages were sampled with the stratified cluster method and investigated for schistosomiasis through the stool examination(Kato-Katz technique)and serum examination(ELISA),and the results were analysed.Results The rates of the examination accepted of the 1st stool,2nd stool and serum were 92.2%,89.7% and 99.7%,respectively.There were significant differences of the rates of the stool examination accepted in different groups of age and education background(P
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Objective To detect the change of the anti-S. japonicum antibody level after people migrated from outside embankment to newly established town. Methods Three pilot spots were established for the investigation: one spot thut both inhabitancy and cultivation disused (A), one spot that only inhabitancy disused but farming continued (B) and the third one served as control (C). DIGFA and ELISA were used to detect the antibody level in the populations from 2002 to 2005. Results The positive rate of anti-S.japonkum antibody declined significantly from 6.63% to 3.52% by DIGFA and from 7.26% to 3.71% by ELISA at spot A (X2=5.2625, P