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1.
Acta Pharmaceutica Sinica ; (12): 3362-3369, 2021.
Article in Chinese | WPRIM | ID: wpr-906836

ABSTRACT

Isopentenyl diphosphate isomerase (IDI) is a key enzyme in the regulation of triterpenes biosynthesis and plays an important role in ginsenoside biosynthesis. In this study, two IDI genes, PvfIDI1 (GenBank No. MZ736417) and PvfIDI2 (GenBank No. MZ736418) were cloned from Panax vietnamensis var. fuscidiscus. The open reading frame of both PvfIDI1 and PvfIDI2 was 924 bp encoding 307 amino acids. The molecular weights of PvfIDI1 and PvfIDI2 were 34.84 kDa and 34.66 kDa, respectively, with theoretical pIs of 6.01 and 5.66. Bioinformatic analysis indicated that PvfIDI1 and PvfIDI2 contained two conserved sequences: TNTCCSHPL and WGEHELDY. Phylogenetic analysis showed that PvfIDI1 and PvfIDI2 were closely related to Panax notoginseng IDI. Expression analysis showed that both PvfIDI1 and PvfIDI2 genes are expressed in root, rhizome, stem and leaf of P. vietnamensis var. fuscidiscus. However, PvfIDI1 is highly expressed in the rhizome and PvfIDI2 is highly expressed in the stem. PvfIDI1 and PvfIDI2 recombinant proteins were expressed in E. coli; a functional coloration experiment showed that PvfIDI1 and PvfIDI2 could promote the accumulation of lycopene, indicating that both PvfIDI1 and PvfIDI2 encode functional IDI enzymes. The cloning and functional studies on PvfIDI1 and PvfIDI2 provide a foundation for the further study of IDI and the regulation of ginsenoside biosynthesis in P. vietnamensis var. fuscidiscus.

2.
China Journal of Chinese Materia Medica ; (24): 3116-3122, 2021.
Article in Chinese | WPRIM | ID: wpr-888051

ABSTRACT

Screening suitable reference genes is the premise of quantitative Real-time PCR(qRT-PCR)for gene expression analysis. To provide stable reference genes for expression analysis of genes in Aconitum vilmorinianum, this study selected 19 candidate re-ference genes(ACT1, ACT2, ACT3, aTUB1, aTUB2, bTUB, 18S rRNA, UBQ, eIF2, eIF3, eIF4, eIF5, CYP, GAPDH1, GAPDH2, PP2A1, PP2A2, ACP, and EF1α) based on the transcriptome data of A. vilmorinianum. qRT-PCR was conducted to profile the expression of these genes in the root, stem, leaf, and flower of A. vilmorinianum. The Ct values showed that 18S rRNA with high expression level and GAPDH2 with large expression difference among organs were not suitable as the reference genes. NormFinder and geNorm showed similar results of the expression stability of the other candidate reference genes and demonstrated PP2A1, EF1α, and CYP as the highly stable ones. However, BestKeeper suggested EF1α, ACT3, and PP2A1 as the top stable genes. In view of the different results from different softwares, the geometric mean method was employed to analyze the expression stability of the candidate re-ference genes, the results of which indicated that PP2A1, EF1α, and ACT3 were the most stable. Based on the comprehensive analysis results of geNorm, NormFinder, BestKeeper, and geometric mean method, PP2A1 and EF1α presented the most stable expression in different organs of A. vilmorinianum. PP2A1 and EF1α were the superior reference genes for gene expression profiling in different organs of A. vilmorinianum.


Subject(s)
Aconitum , Gene Expression Profiling , Genes, Plant/genetics , Real-Time Polymerase Chain Reaction , Reference Standards , Reverse Transcriptase Polymerase Chain Reaction
3.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 147-153, 2019.
Article in Chinese | WPRIM | ID: wpr-801812

ABSTRACT

Objective: To clone the squalene epoxidase genes of Panax vietnamensis var. fuscidiscus(PvfSE),and perform bioinformatics analysis and prokaryotic expression. Method: Total RNA was extracted from root of P. vietnamensis var. fuscidiscus by trizol method, and reverse-transcribed into first stand of cDNA. Specific primers for PvfSE cloning were designed according to the transcriptome data of P. vietnamensis var. fuscidiscus,and the cDNA sequence of PvfSE gene was isolated. Bioinformatics of PvfSE was analyzed by relevant software. The prokaryotic expression vector pMal-c2X-PvfSE was built to express recombinant protein in Escherichia coli cells. Result: The PvfSE gene contained a 1 887 bp open reading frame,encoding a predicted protein of 628 amino acids. The calculated molecular weight was 68.8 kDa,the theoretical isoelectric point was 9.28,the aliphatic index was 95.18,the grand average of hydropathicity was -0.060, and the instability index was 40.36. The protein was unstable. Bioinformatics analysis showed that PvfSE had two transmembrane domains and no signal peptide. PvfSE was most likely to be located in chloroplast or cytoplasmic membrane. PvfSE was a mixed protein with FAD/NAD(P) binding domain and squalene epoxidase domain. Sequence alignment and phylogenetic analysis demonstrated that PvfSE had a relatively close relationship with CpSE1,CpSE3,OsSE1 and OsSE2,which was involved in the biosynthesis of triterpene saponins in Cucurbita pepo and Ononis spinosa. In addition,PvfSE protein was expressed in E. coli. Conclusion: In this study,PvfSE gene was cloned and expressed in BL21(DE3),which lays a foundation for the further study on the gene functions of PvfSE and the biosynthetic pathway of triterpenoid saponins in P. vietnamensis var. fuscidiscus.

4.
Journal of Regional Anatomy and Operative Surgery ; (6): 144-147, 2018.
Article in Chinese | WPRIM | ID: wpr-702235

ABSTRACT

Objective To investigate the feasibility of 18G trocar for central venous catheterization in adults.Methods Retrospective analyzed the clinical data of 60 patients with central venous catheterization under local anesthesia.These patients were randomly divided into the control group and the observation group.Selected the internal jugular vein as the site of the puncture catheter.The control group was punc-tured by conventional puncture needle while the observation group was punctured by the 18G trocar.Results There was no statistical differ-ence between the two groups in the success rate of final puncture and catheterization(P>0.05).Compared with the control group,the suc-cess rate of guidewire insert was higher,the puncture operation time was shorter,the pain score during puncture operation was lower,and post-operative patient satisfaction was higher in the observation group.The differences of the two groups were statistically significant(P<0.05). Conclusion 18G trocar can perform central venous catheterization successfully.This method has great advantages for awake patients,and it also worked in some cases with difficult wire insertion.

5.
Acta Pharmaceutica Sinica ; (12): 1449-1457, 2018.
Article in Chinese | WPRIM | ID: wpr-780019

ABSTRACT

This study was designed to explore the impact of Huanglian Jiedu Decoction (HLJDT) on macrophage inflammation reaction using the network pharmacology method. Glycolysis, sphingolipid metabolism and glutamine metabolism were also investigated for "multi-component, multi-target and multi-pathway", which supports a foundation for drug innovative research. The TCMSP database was used to screen the active components of HLJDT, the target protein predicted by PharmMapper database and the DAVID database for pathways annotation and analysis. The Cytoscape 3.2.1 software was used to construct the active componenttarget-pathway network map and GENEMANIA database for protein interaction analysis. System Dock Database Site is used in verification of molecular docking. The results showed that 84 active ingredients were screened in HLJDT with a total of 111 target targets. Fourteen pathways are affected according to 13 macrophage-related inflammatory proteins, and 8 pathways including 34 target proteins from glycolysis, sphingolipid metabolism and glutamine metabolism. Inflammation-related proteins and metabolism-related proteins can interact with each other through physical correlation, protein co-expression, etc. Berberine, baicalin and geniposide combined well with 5 important targets. Huanglian Jiedu Decoction may act on the glycolysis and sphingolipid pathways to regulate macrophage inflammatory responses.

6.
China Journal of Endoscopy ; (12): 50-54, 2017.
Article in Chinese | WPRIM | ID: wpr-664344

ABSTRACT

Objective To explore the clinical value of sEST+EPBD applied in patients with mild-to-moderate biliary pancreatitis. Methods We selected out 60 cases mild or moderate biliary pancreatitis from January, 2013 to December, 2015, and randomly divided these cases into control group, EST group and sEST + EPBD group. We compared serological indexes, postoperative inflammation index, concurrent operation, hospitalization and follow-up indicators of these three groups. Results The levels of serum amylase, CRP and PCT were no statistical significance in three groups (P > 0.05). Total lengths of hospital stay and recurrence of pancreatitis in EST groups and sEST + EPBD group were significantly shorter than in control group (P < 0.05), and the total cost of hospitalization in sEST + EPBD group was obviously lower than in control group (P < 0.05). The level of postoperative serum amylase in sEST + EPBD group was obviously higher than in EST group, and the total length of hospital stay, cost and operative complications in sEST+EPBD group was significantly lower than that in EST group (P < 0.05); However, within one year, recurrences of pancreatitis and rates of cholecystectomy were no significant differences in these two groups. Conclusion sEST+EPBD is an effective and safe treatment in mild or moderate biliary pancreatitis, and can reduce the length of hospital stay and cost, operative complications, and assist the implementation of interval laparoscopic cholecystectomy.

7.
International Eye Science ; (12): 2019-2023, 2017.
Article in Chinese | WPRIM | ID: wpr-669256

ABSTRACT

AIM:To verify the safety application of MIL60 in the treatment of corneal neovascularization both in vivo and in vitro.METHODS:We observed the biological characteristics of human corneal epithelial cells.The cell proliferation was analyzed using CCK-8 assay,which also used to test the toxicity of MIL60 and the solvent on cultured human corneal epithelial (HCE).FACs was used to analyze the apoptosis of HCE after treated with MIL60.Also we evaluated the effect of subconjunctival injection of MIL60 on corneal epithelial healing model in normal rat and rats with epithelium defect through slit lamp-microscopy,Draize scores and histopathology way.RESULTS:The proliferation speed of HCE in three groups was the same.MIL60 did no harm on the proliferation of HCE and the apoptosis of HCE,and has no effect on corneal epithelial healing and other parts of the ocular in rats without inflammation cells infiltration.CONCLUSION:When given subconjunctival injection,Mil60 does no harm to the proliferation and apoptosis of HCE,and is safe with ocular application.

8.
Acta Pharmaceutica Sinica ; (12): 1268-1275, 2017.
Article in Chinese | WPRIM | ID: wpr-779722

ABSTRACT

This study was designed to explore the "multi-components, multi-targets and multi-pathways" intervention mechanism of Huanglian Jiedu decoction (HLJDD) in the treatment of Alzheimer's disease (AD) by pharmacological network technology, which may establish a foundation for drug development and innovative research. Seventeen active constituents of HLJDD with anti-AD activities were submitted to PharmMapper and Molecule Annotation System (MAS 3.0) bioinformatics softwares to predict the target proteins and carry out related KEGG pathways annotation respectively. The network of "active compound-target-pathway" was constructed and analyzed using the Cytoscape 3.4.0 software. The results suggest that 47 pathways are affected by the 17 active components through 59 target proteins, in which 4 target proteins are related to AD and 2 pathways related to neuroinflammation, respectively. The effect of HLJDD on AD may be dependent on clearing/reducing β-amyloid protein, inhibiting Tau hyperphosphorylation, anti-inflammation and immunoregulation.

9.
Br J Med Med Res ; 2014 Jan; 4(1): 529-539
Article in English | IMSEAR | ID: sea-174931

ABSTRACT

Aims: To objectively evaluate the level of scientific research of Centers for Disease Control and Prevention (CDCs) of the provincial capital cities in China. Design:To compare each capital city’s scientific research output in China, the authors used authoritative Chinese databases to retrieve scientific research literature published by the 31 Chinese provincial capital cities CDCs nationwide published between January 2007 and December 2011. Data were stored and analysed using NoteExpress2.0 software. Place and Duration of Study: Department of Medicineand the Centers for Disease Control and Prevention, between May 2012 and July 2012. Methodology: All the articles published by the CDCs of provincial capital cities between 2007 and 2011 were retrieved from scientific literature databases. Data were stored and analysed in NoteExpress2.0 reference management analysis software. Bibliometric methods were used to statistically analyze the data. We developed an Overall influence index (ΣIFN) which combined the number of published papers and the impact factor for each one (IF) to derive an overall and objective index. Results: Overall 9,445 Chinese language and 202 English language papers fulfilled our inclusion criteria. A gradual upward trend in published literature of provincial capital cities CDC was observed between 2007 and 2011. The co-author rate was relatively high and the content of the journals was extensive. The Overall influence index of Beijing CDC is the highest (626.682),and Lasa CDC gets the lowest(1.354). Conclusion: The development of the level of scientific research is uneven in different areas. The ΣIFN index of the developed regions is higher, and that of western under developed region is lower.

10.
Journal of Forensic Medicine ; (6): 202-206, 2014.
Article in Chinese | WPRIM | ID: wpr-983908

ABSTRACT

Schizophrenia is a common but complex mental disorder affected by multiple factors. Forensic psychiatric assessment of schizophrenia involves evaluations on many aspects, but there is no effective biological identification index for schizophrenia. Researches indicate that dysfunction of dopaminergic neurotransmission plays an important role in the pathogenesis of schizophrenia. Our study reviews the classification, genetic structure of dopamine receptors and the recent pertinent studies between the dopamine receptors and schizophrenia and its forensic significance.


Subject(s)
Humans , Forensic Medicine , Mental Disorders , Polymorphism, Genetic , Psychotic Disorders , Receptors, Dopamine/genetics , Schizophrenia/genetics , Schizophrenic Psychology
11.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 23-8, 2014.
Article in English | WPRIM | ID: wpr-636505

ABSTRACT

The effect of thymic stromal lymphopoietin (TSLP) on macrophage-derived foam cell formation and the underlying mechanism were studied. Macrophages isolated from C57BL/6 mice were co-cultured in vitro with different concentrations of TSLP or TSLPR-antibody in the presence of oxidized low density lipoprotein (ox-LDL). The effects of TSLP on macrophage-derived foam cell formation were observed by using oil red O staining and intracellular lipid determination. The expression levels of foam cell scavenger receptors (CD36 and SRA) as well as ABCA1 and TSLPR were detected by using RT-PCR and Western blotting. As compared with the control group, TSLP treatment significantly promoted lipid accumulation in macrophages, significantly increased protein expression of CD36 and TSLPR in a dose-dependent manner, and significantly reduced the expression of ABCA1 protein in a dose-dependent manner. No significant differences were noted between the TSLPR-antibody group and the control group. TSLP may down-regulate the expression of cholesterol efflux receptor ABCA1 and up-regulate scavenger receptor expression via the TSLPR signaling pathway, thereby promoting macrophage-derived foam cell formation.

12.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 23-28, 2014.
Article in English | WPRIM | ID: wpr-251366

ABSTRACT

The effect of thymic stromal lymphopoietin (TSLP) on macrophage-derived foam cell formation and the underlying mechanism were studied. Macrophages isolated from C57BL/6 mice were co-cultured in vitro with different concentrations of TSLP or TSLPR-antibody in the presence of oxidized low density lipoprotein (ox-LDL). The effects of TSLP on macrophage-derived foam cell formation were observed by using oil red O staining and intracellular lipid determination. The expression levels of foam cell scavenger receptors (CD36 and SRA) as well as ABCA1 and TSLPR were detected by using RT-PCR and Western blotting. As compared with the control group, TSLP treatment significantly promoted lipid accumulation in macrophages, significantly increased protein expression of CD36 and TSLPR in a dose-dependent manner, and significantly reduced the expression of ABCA1 protein in a dose-dependent manner. No significant differences were noted between the TSLPR-antibody group and the control group. TSLP may down-regulate the expression of cholesterol efflux receptor ABCA1 and up-regulate scavenger receptor expression via the TSLPR signaling pathway, thereby promoting macrophage-derived foam cell formation.


Subject(s)
Animals , Mice , ATP Binding Cassette Transporter 1 , Genetics , Metabolism , Antibodies , Allergy and Immunology , Pharmacology , Blotting, Western , CD36 Antigens , Genetics , Metabolism , Cells, Cultured , Cholesterol , Metabolism , Cholesterol Esters , Metabolism , Cytokines , Pharmacology , Dose-Response Relationship, Drug , Foam Cells , Cell Biology , Metabolism , Gene Expression , Immunoglobulins , Allergy and Immunology , Metabolism , Lipoproteins, LDL , Pharmacology , Macrophages , Cell Biology , Metabolism , Mice, Inbred C57BL , Receptors, Cytokine , Allergy and Immunology , Metabolism , Reverse Transcriptase Polymerase Chain Reaction , Scavenger Receptors, Class A , Genetics , Metabolism
13.
Journal of Forensic Medicine ; (6): 360-364, 2013.
Article in Chinese | WPRIM | ID: wpr-983852

ABSTRACT

OBJECTIVE@#To investigate SNP and distribution of haplotypes in differentially methylated region (DMR) upstream of H19 gene in Chinese Korean nationality in order to provide basic data for forensic application and population genetics research.@*METHODS@#One hundred and one blood samples from unrelated Chinese Korean individuals and 14 blood samples from 5 Chinese Korean intergenerational families which known genetic relationship were collected. The SNP in DMR upstream of H19 gene were investigated by PCR-cycle sequencing and McrBC digestion followed by PCR. The haplotypes detected by parentally imprinted allele (PIA) method and relevant genetic parameters were calculated.@*RESULTS@#Thirteen SNPs (rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098) and five haplotypes were detected in 1 174 bp target product in DMR upstream of H19 gene, with 9 SNPs having high discrimination power as good genetic markers. The average gene diversity (GD) of haplotypes was 0.714. The maternal haplotype was confirmed correctly by PIA method from McrBC-digested products of genomic DNA.@*CONCLUSION@#High polymorphisms exist in DMR upstream of H19 gene in Chinese Korean nationality. And determination of the maternal haplotype could furthermore enhance the forensic identification efficiency of imprinted gene.


Subject(s)
Humans , Asian People/genetics , China , DNA/genetics , DNA Methylation , DNA Primers , Forensic Genetics/methods , Gene Frequency , Genotype , Haplotypes , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , RNA, Long Noncoding/genetics , Republic of Korea/ethnology , Sequence Analysis, DNA
14.
Journal of Forensic Medicine ; (6): 241-243, 2013.
Article in Chinese | WPRIM | ID: wpr-983827

ABSTRACT

OBJECTIVE@#To explore the relationship between corneal thickness and postmortem interval (PMI) in rabbit.@*METHODS@#The rabbit model was established by air embolism. The rabbit cornea was sampled at 6-hour-interval from 0 to 72 h postmortem. After routine HE staining, the whole cornea image was collected by the optical microscope. Three markers were observed including corneal epithelial thickness (x1), corneal stromal thickness (x2) and whole corneal thickness (x3) using Motic Images Plus 2.0 image analysis software and the data were statistically analyzed to establish the regression function with PMI (y).@*RESULTS@#Within 72 h postmortem, rabbit corneal stromal thickness and whole corneal thickness increased at 12h postmortem and reached the peak at 54h postmortem. The two markers showed positive correlation with PMI. The regression functions of the two markers were y = -0.070 2 x2(2) +11.398 x2 + 1634 (R2 = 0.712 2, P < 0.05) and y = -0.074 9 x3(2) +12.036 x3 + 1819.4 (R = 0.675 0, P < 0.05), respectively.@*CONCLUSION@#The two markers of corneal stromal thickness and the whole corneal thickness showed the strong linear correlation with PMI. The correlation of the corneal stromal thickness is better than the whole corneal thickness. The two markers can be used to estimate PMI.


Subject(s)
Animals , Female , Male , Rabbits , Autopsy , Cornea/pathology , Corneal Opacity/pathology , Corneal Stroma/pathology , Forensic Medicine/methods , Image Processing, Computer-Assisted , Microscopy, Confocal , Postmortem Changes , Time Factors
15.
Journal of Forensic Medicine ; (6): 125-126, 2013.
Article in Chinese | WPRIM | ID: wpr-983806

ABSTRACT

OBJECTIVE@#To explore the feasibility of improving the sensitivity of DNA detection by increasing the PCR cycle index and decreasing the volume of amplifying system.@*METHODS@#The DNA of semen were collected from 10 healthy irrelevant volunteers, and were quantified to 50, 40, 30, 25, 20, 15, 10 pg/microL, separately. All samples were then amplified in 10, 5, 3 microL volume and at 28, 30, 32, 34, 36 cycles, respectively. 3130 genetic analyzer was used to detect 15 autosomal STR loci.@*RESULTS@#Under the situation of 28 cycles and 3 microL volume, samples which achieved > 40 pg/microL could be correctly typed. Under the situation of 10, 5, 3 microL volume, samples which achieved > 20 pg/microL could be correctly typed at 34 cycles. When increasing the index to 36 cycles, they could not be correctly typed because of the non-specific band.@*CONCLUSION@#DNA detecting sensitivity can be improved to a certain extent by increasing the cycle index and decreasing the volume of amplifying system.


Subject(s)
Humans , Male , DNA/genetics , DNA Fingerprinting/methods , Feasibility Studies , Forensic Genetics/methods , Limit of Detection , Polymerase Chain Reaction/methods , Semen/chemistry , Sensitivity and Specificity , Tandem Repeat Sequences
16.
Journal of Forensic Medicine ; (6): 107-109, 2013.
Article in Chinese | WPRIM | ID: wpr-983801

ABSTRACT

OBJECTIVE@#To investigate the single nucleotide polymorphisms (SNP) of -855 G/C and -1140 G/A in promoter regions of GRIN1 gene and find their genetic correlation to paranoid schizophrenia as well as their applicable values in forensic medicine.@*METHODS@#The genetic polymorphisms of -855 G/C and -1140 G/A at the 5' end of GRIN1 gene were detected by PCR restriction fragment length polymorphism and PAGE in 183 healthy unrelated individuals of northern Chinese Han population and 172 patients of paranoid schizophrenia, respectively. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution. The differences of genotypes and allelic frequency distributions were compared between the two groups.@*RESULTS@#Distributions of the genotypic frequencies satisfied Hardy-Weinberg equilibrium in both groups. The difference of genotypes was statistically significant between female patient group and female control group in -855 G/C distribution (P < 0.05). The differences of genotypes and allelic frequencies were statistically significant not only between the patient group and the control group but also between female patient group and female control group in -1140 G/A distribution (P < 0.05).@*CONCLUSION@#The SNP of -1140 G/A in promoter regions of GRIN1 gene might positively correlate to paranoid schizophrenia. The genetic factor of schizophrenia is involved in gender tendency. And it could be useful in forensic identification of schizophrenia.


Subject(s)
Female , Humans , Male , Alleles , Asian People/genetics , Base Sequence , Gene Frequency , Genetic Predisposition to Disease/genetics , Genotype , Nerve Tissue Proteins/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Promoter Regions, Genetic , Receptors, N-Methyl-D-Aspartate/genetics , Schizophrenia, Paranoid/genetics , Sequence Analysis, DNA
17.
Journal of Forensic Medicine ; (6): 37-48, 2013.
Article in Chinese | WPRIM | ID: wpr-983791

ABSTRACT

OBJECTIVE@#To reveal the genetic polymorphisms of four SNP loci (rs77434921, rs2076907, rs6283, rs1800762) in D5 gene of dopamine receptor (DRD5) in Northern Chinese Han population.@*METHODS@#Four SNP loci of the DRD5 gene of 206 unrelated individuals in Northern Chinese Han population were separately amplified and sequenced by PCR technique and statistically analyzed by Haploview v4.1 software.@*RESULTS@#In Northern Chinese Han population, the genotype frequency distribution of rs77434921, rs2076907, rs6283 and rs1800762 loci in the DRD5 gene were all in accordance with Hardy-Weinberg equilibrium. DP value was 0.145, 0.532, 0.602 and 0.159, while PE value was 0.004, 0.079, 0.196 and 0.007. A linkage disequilibrium among these four SNP loci was also demonstrated, which might infer five haplotypes.@*CONCLUSION@#rs2076907 and rs6283 loci of DRD5 gene in the Northern Chinese Han population have high genetic polymorphisms, which can be useful for forensic identification of individuals.


Subject(s)
Humans , Asian People/genetics , China/ethnology , DNA Primers/genetics , Forensic Genetics , Gene Frequency , Genetic Markers , Genotype , Haplotypes , Linkage Disequilibrium , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , Receptors, Dopamine D5/genetics
18.
Journal of Forensic Medicine ; (6): 21-24, 2013.
Article in Chinese | WPRIM | ID: wpr-983786

ABSTRACT

OBJECTIVE@#To investigate the genetic polymorphism in the 5' and 3' region of TPH2 gene of Northern Chinese Han population and to explore its application value in forensic medicine.@*METHODS@#The sequence variants and the genetic polymorphisms of 6 SNP loci (rs4570625, rs11178997, rs11178998, rs41317118, rs17110747 and rs41317114) within a 905 bp 5' flanking region and a 1,104bp 3' flanking region of TPH2 gene were analyzed by DNA sequencing in a total of 244 unrelated healthy individuals in Northern Chinese Han population. The statistical analysis was carried out by Haploview v4.2 software.@*RESULTS@#The genotypic distributions of the 6 SNP loci in the TPH2 gene were in accordance with Hardy-Weinberg equilibrium. One C/T variant in 92922 site was found. There was a high linkage disequilibrium among the 3 SNP loci (rs4570625, rs11178997 and rs11178998) in the 5' region and the 3 SNP loci (rs41317118, rs17110747 and rs41317114) in the 3' region of TPH2 gene, respectively. The parameters of population genetics of 6 SNP loci were obtained.@*CONCLUSION@#There are great polymorphisms in the 5' and 3' region of TPH2 gene in Northern Chinese Han population, which could be used as genetic indexes for association analysis of the related diseases, as well as for forensic individual identification and paternity testing.


Subject(s)
Humans , 3' Untranslated Regions , 5' Untranslated Regions , Asian People/genetics , China/ethnology , Forensic Genetics , Gene Frequency , Genetics, Population , Genotype , Linkage Disequilibrium/genetics , Microsatellite Repeats , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , Tryptophan Hydroxylase/genetics
19.
Journal of Forensic Medicine ; (6): 418-421, 2012.
Article in Chinese | WPRIM | ID: wpr-983770

ABSTRACT

OBJECTIVE@#To investigate the population genetic data of 3 SNP loci (rs25533, rs34388196 and rs1042173) of 5-hydroxytryptamine transporter (5-HTT) gene and the association with paranoid schizophrenia.@*METHODS@#Three SNP loci of 5-HTT gene were examined in 132 paranoid schizophrenia patients and 150 unrelated healthy individuals of Northern Chinese Han population by PCR-RFLP technique. The Hardy-Weinberg equilibrium test was performed using the chi-square test and the data of haplotype frequency and population genetics parameters were statistically analyzed.@*RESULTS@#Among these three SNP loci, four haplotypes were obtained. There were no statistically significant differences between the patient group and the control group (P > 0.05). The DP values of the 3 SNP loci were 0.276, 0.502 and 0.502. The PIC of them were 0.151, 0.281 and 0.281. The PE of them were 0.014, 0.072 and 0.072.@*CONCLUSION@#The three SNP loci and four haplotypes of 5-HTT gene have no association with paranoid schizophrenia, while the polymorphism still have high potential application in forensic practice.


Subject(s)
Adult , Female , Humans , Male , Asian People/genetics , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype , Haplotypes , Polymerase Chain Reaction/methods , Polymorphism, Single Nucleotide/genetics , Schizophrenia, Paranoid/genetics , Serotonin Plasma Membrane Transport Proteins/genetics
20.
Journal of Forensic Medicine ; (6): 299-304, 2012.
Article in Chinese | WPRIM | ID: wpr-983753

ABSTRACT

Catechol-O-methyltransferase (COMT) gene encodes catechol-O-methyltransferase, the variant of this gene may affect the expression and metabolic activity of COMT. As the result of the changes of the effective concentration of the catecholamine neurotransmitter in the central nervous system, central nervous system dysfunctions associated with schizophrenia. This review summarizes genetic polymorphism and diversity of COMT gene. It also elaborates the relation between SNP and haplotype of COMT gene and three aspects, which including schizophrenia, attacking and violent tendency, and the frontal cognitive function of the schizophreniac. The correlativity study between genetic variation of the COMT gene and schizophrenia in patients with attacking and violent tendency may be helpful for the assessment of forensic psychiatry.


Subject(s)
Humans , Aggression/psychology , Brain/pathology , Catechol O-Methyltransferase/genetics , Cognition/physiology , Dopamine/metabolism , Forensic Genetics , Gene Expression , Genetic Predisposition to Disease , Genetic Variation , Genotype , Haplotypes , Polymerase Chain Reaction , Polymorphism, Genetic , Prefrontal Cortex/pathology , Promoter Regions, Genetic , Schizophrenia/genetics , Violence/psychology
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