【Objective】To explore the optimal conditions in fingerprinting (APHDF).【Methods】The human DNA fingerprints were detected by APHDF.A pair of short primers was used for amplification.The experimental conditions including template,Mg2+,deoxyribonucleotides,and parameters of cycle,were optimized.【Results】The template DNA should be abstracted freshly and the concentration should be ranged from 50～550 mg/L.The best concentration of Mg2+was 5.0 mmol/L.The deoxyribonucleotides concentration was optimal at 0.2 mmol/L.The PCR cycling parameters were as follows :The denaturing temperatures,annealing temperatures and extension temperatures were 94 ℃ and 90 ℃ for 30 s,43 ℃ and 48 ℃ for 40 s or 50 s,and 72 ℃ for 1 min or 80 s,respectively.【Conclusion】The optimal conditions of the experiment are obtained,with good reproducibility and high specificity.Therefore,this method can be widely applied in practice.

Objective To explore the related protein which lead to rheumatoid arthritis (RA) and to find different proteins associated with active RA by comparing the expression levels of proteins in the peripheral blood mononuclear cells (PBMCs) of healthy individuals to patients with rheumatoid arthritis using a proteomics approach. Methods Samples of peripheral blood were collected from 9 patients diagnosed as active RA and 9 healthy individuals. PBMCs were isolated from blood using lymphoeytes separation medium. The total protein was extracted from the peripheral blood mononuclear cells. The total protein from either RA patients or normal controls was prepared by means of immobilized pH gradient based on two-dimensional gel eleetrophoresis. After Coomassie brilliant blue G250 staining, gel-image analysis was performed by using PDQuest.The differentially expressed proteins were identified by matrix-assisted laser desorption ionization-time-of-flight mass spectrometry (MALD I-TOF-MS). Then APOA-I was validated by RT-PCR. Results 2-DE patterns of PBMCs from controls and RA patients were presented. The results showed that the average number of protein spots was 556 and 579 respectively, and the corresponding average matching rate was 89.4％ and 88.5％ respectively. Gel-image analysis revealed that there were 23 differential protein spots. Fourteen of total 18 differential protein spots were successfully identified by MALD I-TOF-MS, of which 8 proteins were upregulated such as actin beta, fibrinogen beta chain, ApoA-I ; and 6 proteins such as peroxiredoxin-2, glu-tathione S-transferase omega 1 were down-regulated when compared with controls. The result of ApoA-I by RT-PCR was consistent with the proteomics results. Conclusion Some differentially expressed proteins are observed in the PBMCs of patients with rheumatoid arthritis, which may play a potential role in the pathogenesis of RA.

Objective:To evaluate the effect of mobile network platform in out-of-hospital rehabilitation of patients with total knee arthroplasty.Methods:CNKI, Wanfang, VIP, Chinese biomedical literature database, PubMed, Cochrane Library, EMbase and Web of Science database were searched by computer. To collect randomized controlled trials of out-of-hospital rehabilitation management for knee arthroplasty patients using mobile network platform. Two researchers independently screened literature, extracted data and evaluated quality according to inclusion exclusion criteria,and Stata 12.0 software was used for meta-analysis of the required documents.Results:A total of 10 articles were included for meta-analysis. A total of 933 patients were included, 471 in the intervention group and 462 in the control group. Meta-analysis showed that the knee function of patients with total knee arthroplasty managed by mobile network platform were better than those of the control group, and the difference was statistically significant(standardized mean difference( SMD) value was 1.25, 95% confidence interval( CI) 0.84-1.66, P<0.01), but the effect on improving range of motion ( SMD value was 0.29, 95% CI -0.30-0.87, P>0.1) and quality of life( SMD value was 0.90, 95% CI -0.25-2.05, P>0.1) was no difference. Conclusions:There is no obvious effect on the range of motion of the knees and quality of life, while to some extent, the application of mobile network platform in out-hospital rehabilitation management of total knee replacement patients can effectively improve the function of knees. It potentially speed up patients′rehabilitation process.

OBJECTIVETo explore the molecular genetic relationship between chromosome 1 and susceptibility genes for familial schizophrenia in Chinese population.

METHODSA genome scanning was conducted in 32 multiplex pedigrees from Chinese population by using 29 microsatellite markers on chromosome 1.

RESULTSMultipoint parametric analysis detected a maximum heterogenicity Lod of 1.70 at 262.52 cM under a recessive model; multipoint non-parametric analysis detected a maximum non-parameter linkage (NPL) of 1.71 (P=0.046) at 262.52 cM, then 1.37 (P=0.086) at 149.70 cM, corresponding to marker D1S206 and D1S425 respectively.

CONCLUSIONThese results give further supports to the presence of susceptibility genes on chromosome 1q for familial schizophrenia.

Adult ; China ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; genetics ; Family Health ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; genetics ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Middle Aged ; Models, Genetic ; Pedigree ; Schizophrenia ; genetics

OBJECTIVETo understand the mutational patterns and mechanism of short tandem repeats(STRs).

METHODSThe DNA samples of 19 parent-child pairs with mutations in three loci (FGA, D12S391, and D11S554) were genotyped by silver staining on STR. Alleles to be sequenced were excised from gels, reamplified by PCR, and purified. Sequencing was performed by use of cycle sequencing.

RESULTSThere were 18 out of 19 pedigrees in which the 'new' alleles gained or lost a single repeat (8 gains, 7 losses, and 3 being indistinguishable). Only one pedigree lost two repeats. In the 19 pedigrees, there were 13 pedigrees whose 'new' alleles came from fathers, 3 from mothers, 3 from either father or mother. The ratio was 4 1 between fathers and mothers. The mutation of three STR loci occurred in the long, uninterrupted tetranucleotide repeat regions ('CTTT' in FGA, 'AGAT' in D12S391, and 'AAAG' in D11S554).

CONCLUSIONSingle- step mutations accounted for 95% of STR mutation events in these three loci: FGA, D12S391, and D11S554. The rest were double step mutations. There was no insertion or deletion of an incomplete repeat in any of the pedigrees. The mutation was mainly caused by fathers. The long, uninterrupted tetranucleotide repeats in these three loci might be susceptible to mutation.

Alleles ; Base Sequence ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Microsatellite Repeats ; genetics ; Mutation ; Nuclear Family ; Tandem Repeat Sequences ; genetics

OBJECTIVETo explore the molecular genetic relationship between chromosome 1 and quantitative trait loci for familial schizophrenia.

METHODSA series of assessment scales included positive and negative syndrome scale (PANSS), global assessment of functional scale (GAFS), premorbid schizoid and schizotypal traits scale (PSST), premorbid social adjustment scale (PSA) were applied to quantify the phenotypes of schizophrenia. Non-parametric linkage analysis of quantitative traits was conducted in 32 multiplex pedigrees with schizophrenia by using 29 microsatellite makers on chromosome 1.

RESULTSHaseman-Elston quantitative trait analysis detected a maximum Traditional H-E Lods of 1.73 and a maximum EH H-E Lods of 1.65 of negative symptoms (PANSS-N ) at 147.64 cM, which was overlapped to the positive region of 1q21-23 in qualitative linkage analysis.

CONCLUSIONThe results suggest there might be an independent quantitative trait locus of negative symptoms on 1q21-23 for familial schizophrenia.

Chromosomes, Human, Pair 1 ; genetics ; Family Health ; Genetic Linkage ; Humans ; Lod Score ; Microsatellite Repeats ; Quantitative Trait, Heritable ; Schizophrenia ; genetics