[show abstract][hide abstract] ABSTRACT: Dopamine D1 receptor (DRD1) modulates opioid reinforcement, reward, and opioid-induced neuroadaptation. We propose that DRD1 polymorphism affects susceptibility to opioid dependence (OD), the efficiency of transition to OD, and opioid-induced pleasure response. We analyzed potential association between seven DRD1 polymorphisms with the following traits: duration of transition from the first use to dependence (DTFUD), subjective pleasure responses to opioid on first use and post-dependence use, and OD risk in 425 Chinese with OD and 514 healthy controls. DTFUD and level of pleasure responses were examined using a semi-structured interview. The DTFUD of opioid addicts ranged from 5 days to 11 years. Most addicts (64.0%) reported non-comfortable response upon first opioid use, while after dependence, most addicts (53.0%) felt strong opioid-induced pleasure. Survival analysis revealed a correlation of prolonged DTFUD with the minor allele-carrying genotypes of DRD1 rs4532 (hazard ratios (HR) = 0.694; p = 0.001) and rs686 (HR = 0.681, p = 0.0003). Binary logistic regression indicated that rs10063995 GT genotype (vs. GG+TT, OR = 0.261) could predict decreased pleasure response to first-time use and the minor alleles of rs686 (OR = 0.535) and rs4532 (OR = 0.537) could predict decreased post-dependence pleasure. Moreover, rs686 minor allele was associated with a decreased risk for rapid transition from initial use to dependence (DTFUD≤30 days; OR = 0.603) or post-dependence euphoria (OR = 0.603) relative to major allele. In conclusion, DRD1 rs686 minor allele decreases the OD risk by prolonging the transition to dependence and attenuating opioid-induced pleasure in Chinese.
PLoS ONE 01/2013; 8(8):e70805. · 3.73 Impact Factor
[show abstract][hide abstract] ABSTRACT: G-Protein coupled receptor 40 (GPR40) is a membrane-bound G-protein-coupled receptor with high binding affinity to medium- and long-chain free fatty acids (FFAs). Acute activation of GPR40 on pancreatic β-cells causes insulin secretion, whereas prolonged activation may contribute to a deterioration of the effect of saturated FFAs on β-cells. It has been documented that different types of FFAs produce various effects on insulin secretion; however, little information is available regarding the expression of GPR40 and its function after long-term exposure of β-cells to unsaturated FFAs. In the present study, GPR40 expression and function were assessed in INS-1 β-cells after 48 h exposure to different types of unsaturated FFAs. The mRNA and protein expression of GPR40 was increased significantly by long-term exposure of cells to polyunsaturated α-linolenic acid, but not to either oleic acid or linoleic acid. Immunocytochemistry revealed a reduction in the number of insulin-containing granules in cells treated with α-linolenic acid, which was correlated with an increase in cellular expression of GPR40. Basal and glucose-stimulated insulin secretion were markedly suppressed by 48 h treatment of cells with saturated palmitic acid, but not unsaturated α-linolenic acid. By testing various FFAs, it was found that FFA-induced suppression of basal and glucose-stimulated insulin secretion was attenuated by an increase in the degree of unsaturation of the FFAs and GPR40 expression in response to FFA treatment in INS-1 cells. The results of the present study indicate that long-term in vitro treatment of INS-1 rat pancreatic β-cells by unsaturated FFAs protects the cells against from gluco- and lipotoxicities and that this coincides with an increase in GPR40 expression.
Clinical and Experimental Pharmacology and Physiology 02/2012; 39(5):423-8. · 2.16 Impact Factor
[show abstract][hide abstract] ABSTRACT: Deficits in dopamine transmission at D1 receptors in the PFC are implicated in schizophrenia. Genetic polymorphisms in functional regions of DRD1 have a plausible role in modulating the risk of schizophrenia. In order to evaluate the role of DRD1 polymorphisms as a risk factor for schizophrenia, we performed a detailed analysis of possible functional single nucleotide polymorphisms (SNPs) in regulatory and coding regions of DRD1. Nine SNPs were identified by DNA sequencing in 20 patients with schizophrenia. Then 385 cases and 350 healthy control subjects were genotyped using the nine SNPs (rs4867798, rs686, rs1799914, rs4532 rs5326, rs265981, rs10078714, rs10063995, rs10078866). Statistically significant differences were observed in the allelic or genotypic frequencies of the rs686 and rs10063995 polymorphism in the DRD1 gene. A significantly lower risk of schizophrenia was associated with the G allele and AG+GG genotype of rs686 (OR (G allele)=0.632, 95%CI (G allele): 0.470-0.849; OR (AG+GG genotype)=0.578, 95%CI (AG+GG genotype): 0.416-0.803) compared with the A allele and AA genotype, respectively. And a significantly increased risk of schizophrenia was associated with the T allele of rs10063995 (OR=1.446, 95%CI: 1.125-1.859) compared with the G allele. The haplotype analysis indicated the G-T variant containing the T allele of rs10063995 is a risk for schizophrenia (P=0.005, OR=1.467, 95%CI: 1.123-1.917). These data suggest that DRD1 gene polymorphisms confer susceptibility to schizophrenia, and also support the notion that dysfunction of DRD1 is involved in the pathophysiological process of schizophrenia.
Brain research 09/2011; 1420:106-13. · 2.46 Impact Factor
[show abstract][hide abstract] ABSTRACT: The opioid system plays an important role in memory processess. Morphine mimics endogenous opioids by acting on opioid receptor in brain to regulate memory. However, the effects of morphine on spatial memory acquisition are controversial. Also, little evidence has suggested that morphine could affect the retrieval of spatial memory. In the current study, effects of pre-training morphine and naloxone on the acquisition vs. retrieval of spatial reference vs. working memory were examined using discrete water maze tasks in C57BL/6 mice. Pre-training morphine administration (7.5 and 15 mg/kg, i.p.) impaired the acquisition of both spatial reference memory and working memory. Motivation to escape from the water maze was not affected by morphine. Pre-test morphine also inhibited the retrieval of spatial working memory but not reference memory. The effects of morphine on the acquisition and retrieval of spatial working memory were eliminated by naloxone pretreatment (1mg/kg). These results indicate that morphine could differentially modulate a variety of aspects of spatial memory and these effects are mediated by the mu-opioid receptor.
[show abstract][hide abstract] ABSTRACT: To explore the features of genetic differentiation and gene flow of ten minorities in Yunnan province according to nine CODIS short tandem repeat(STR) loci (CSF1PO, FGA, THO1, TPOX, v WA, D3S1358, D5S818, D7S820 and D13S317).
Heterozygosity and parameters of population differentiation such as F, theta, f and Gst at each locus were calculated. DA genetic distance and fixation index Fst were calculated by Phylip 3.6 and Arlequin 3.0 software, respectively. Phylogenetic trees were constructed by Mega 3.0, and the patterns of gene flow were analyzed by R-matrix model.
It showed that average genetic heterogeneity in ten minorities was above 0.7. Significant difference was found for most of the loci in genetic differentiation. Phylogenetic tree analysis showed that the ten minorities were divided into two clusters. The results of the R-matrix analysis showed that the gene flow of Yi and Dai minorities were higher than that of other minorities, while the pattern of gene flow of Dulong minority demonstrated some of the isolation.
Nine STR loci commonly used in forensic identification show a high polymorphism. Heterozygosity can be used for investigating genetic differentiation and gene flow of minority. The ten minorities in Yunnan are independent populations, while the level of differentiation is not high. The relationship in evolution is not far from each other and shows a widely gene flow among the minorities.
[show abstract][hide abstract] ABSTRACT: To investigate the genetic polymorphism of 15 autosomal short tandem repeat (STR) loci, i.e. D5S818, FGA, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX and D18S51, in Tibetan population of Changdu area, and to analyze the genetic relationship between this population and other Asian populations.
The 15 loci were amplified simultaneously using a multiplex PCR typing system. Amplified STR fragments were analyzed with an ABI PRISM 3100 Avant DNA Analyzer. Arlequin software version 3.1 was used to obtain allele frequencies and polymorphism parameters.
There were 135 STR alleles in the 15 STRs of Changdu Tibetan, with allele frequencies ranging from 0.0065 to 0.5455. The average heterozygosity was 0.7340, the discrimination power was higher than 0.8 except for TPOX and TH01. The accumulative discrimination power was more than 0.9999998, and the accumulative non-parental exclusion probability was 0.99999997.
The 15 STR loci of Changdu Tibetan possess characteristics of high genetic diversity. They can be employed in minority genetics investigation, and individual and paternity test in forensic medicine.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 08/2009; 26(4):469-73.
[show abstract][hide abstract] ABSTRACT: To study the genetic polymorphism of nine short tandem repeats (STRs) loci (DXS7130, DXS7132, DXS6804, DXS7423, DXS7424, DXS6789, DXS6799, DXS8378, and HPRTB) on X chromosome in Chinese Yugur ethnic group. The allele and genotype frequency of nine X-STR loci among 120 unrelated individuals (55 female, 65 male) from Yugur ethnic group were analyzed using PCR and followed by polyacrylamide gel electrophoresis and silver staining. The numbers of alleles in the nine X-STR loci were 8, 6, 6, 5, 6, 7, 6, 4, and 6, respectively; the numbers of genotypes in the nine loci were 16, 14, 13, 6, 13, 20, 11, 6, and 12, respectively. The genotype frequencies in females were in accordance with Hardy-Weinberg equilibrium (P>0.05). The nine X-STR loci were relatively abundant in polymorphic information for individual identification, paternity testing and population genetics. A total of 15 haplotypes were detected in DXS7130 and DXS8378 loci, and 55 haplotypes were detected in DXS6789, DXS6799, DXS7424, and DXS6804 loci. The haplotype diversity reached 0.8212 and 0.9947, respectively. Phylogeny tree and cluster analysis based on X-STR allele frequencies in genesis showed that Yugur ethnic group share a close relationship with Mongolian ethnic group and Chinese Han, Tibetan population and far from Hui and Uygur ethnic group, who dwell in the northwest of China.
[show abstract][hide abstract] ABSTRACT: Epigenetics refers to the heritable, but reversible, regulation of various biological functions mediated principally through changes in DNA methylation and chromatin structure derived from histone modification. Recent research indicated that epigenetic mechanisms may play vital role in etiology of major psychosis, such as schizophrenia, bipolar disorder and drug addiction. With brief introduction of epigenetic molecular mechanisms and relevance of epigenetics to human common diseases, this review focuses on epigenetic hypothesis and some supporting evidence which are recently emerged in major depressive disorder (MDD).
[show abstract][hide abstract] ABSTRACT: Genomic DNA was extracted from whole blood of 198 unrelated health individuals of Tujia ethnic group from south China's Hunan Province. Genotyping and detection of PCR products were carried out on denaturing polycrylamide gel electrophoresis followed by silver staining. Allele frequencies and genotype frequencies were computed. Deviation from Hardy-Weinberg equilibrium and differences of gene distribution were examined by SPSS 13.0. Fixation index, genetic polymorphism and indices of forensic application were calculated using Fstat and Powerstats, respectively. The results revealed that the frequencies of 65 alleles were distributed from 0.0048 to 0.6170. Among the ten X-STR loci, DXS6789, DXS6799 and HPRTB presented lower diversity and differentiation, while DXS7133 and DXS7423 showed lower value in forensic application. Results of multiple comparisons by loci showed that difference between German, Italian and Tujia population were the most dominant, and it suggested that great genetic differences did exist between Caucasian and Mongo-lian. In conclusion, DXS6804, DXS7132, DXS7130, DXS8378, DXS6789, DXS6799, DXS7424 and HPRTB had a good value in forensic identification, paternity testing of female and disease related study for Tujia population.
[show abstract][hide abstract] ABSTRACT: Venous blood samples from 50 unrelated Oroqen individuals living in Inner Mongolia were collected and their mtDNA HVR I and HVR II sequences were detected by using ABI PRISM377 sequencers. The number of polymorphic loci, haplotype, haplotype frequence, average nucleotide variability and other polymorphic parameters were calculated. Based on Oroqen mtDNA sequence data obtained in our experiments and published data, genetic distance between Oroqen ethnic group and other populations were computered by Nei's measure. Phylogenetic tree was constructed by Neighbor Joining method. Comparing with Anderson sequence, 52 polymorphic loci in HVR I and 24 loci in HVR II were found in Oroqen mtDNA sequence, 38 and 27 haplotypes were defined herewith. Haplotype diversity and average nucleotide variability were 0.964+/-0.018 and 7.379 in HVR I, 0.929+/-0.019 and 2.408 in HVR II respectively. Fst and dA genetic distance between 12 populations were calculated based on HVR I sequence, and their relative coefficients were 0.993(P < 0.01). A phylogenetic tree was constructed based on genetic distances and included Oroqen, Taiwan and South Han population in a clade, which indicated near genetic relation between them, and far relation with northern Han, Mongolian and other foreign populations. The genetic polymorphism of mtDNA HVR I and HVR II in Oroqen ethnic group has some specificities compared with that of other populations. These data provide a useful tool in forensic identification, population genetic study and other research fields.
[show abstract][hide abstract] ABSTRACT: In the genetic study, the samples can greatly influence the analysis and interpretation of the genetic data obtained. Here we examined the effects of sample size on the observed number of allele of 9 STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D13S317, D5S818, D7S820) with 30 various population genetic data. The results show: the quantity of alleles and the quantity of samples was not obviously corresponding, while the populations with few samples had more allele observed. And there was no significant influence on the quantity of the allele observed when the quantity of the samples reached to a certain amount. H (heterozygosity) was up to a stable level when the quantity of sample was 50. Those who had low heterozygosity (such as TPOX) changed obviously with the quantity of samples, while those had high heterozygosity (such as FGA) changed a little with the quantity of samples.
[show abstract][hide abstract] ABSTRACT: We investigated the genetic polymorphisms of HLA-A, B, DRB1 alleles and haplotype frequencies in Mongols from Inner Mongolia, China. A PCR-based reverse line-strip sequence specific oligonucleotide hybridization method was used to determine the alleles of HLA-A, B, DRB1 in 106 unrelated, healthy Mongol individuals of Inner Mongolia. Allelic and haplotype frequencies of these loci were calculated by the maximum likelihood estimator method. Altogether, 13 HLA-A alleles, 29 HLA-B alleles and 13 HLA-DRB1 alleles were observed in the population. The most frequent HLA A-B, B-DRB1, and A-B-DRB1 haplotypes were HLA-A*02-B*46 (0.0510), HLA-A*02-B*13 (0.0495), HLA-A*02-B*51 (0.0442); HLA-B*13-DRB1*07(0.0555), HLA B*46-DRB1*09 (0.0378), HLA-B*35-DRB1*13(0.033); and HLA-A*02-B*13- DRB1*07(0.033019), HLA-A*02-B*46-DRB1*09 (0.031985), respectively. These results indicated that the HLA loci are highly polymorphic in Mongols of Inner Mongolia, and haplotypes HLA-A*24-B*14, HLA-A*32-B*63 have significant linkage disequilibrium.
[show abstract][hide abstract] ABSTRACT: To investigate the alleles and genotypes frequency of 9 short tandem repeat (STR) loci on the X chromosome (DXS6789, DXS101, DXS8378, DXS7132, DXS7133, DXS7423, DXS6804, DXS6799, HPRTB) of Ewenki individuals living in Inner Mongolia Autonomous Region of China.
The 9 X-chromosomal STR loci were analyzed with polymerase chain reation (PCR), followed by polyacylamide gel electrophoresis and silver staining. Software SPSS13.0, Genepop, Fstat and Powerstats were used to evaluate their polymorphism diversity and potential forensic application.
Allele frequencies and genotype frequencies of 99 unrelated Ewenki individuals were obtained. Among the 9 loci, DXS6789, HPRTB showed less polymorphism and diversity in the population. The diversity of DXS7132 has no statistical difference between Ewenki population and other 4 Asian populations.
Except DXS6789, HPRTB, the other 7 X-chromosomal STR loci are appropriate for individual identification, paternity test involving a female child, and studies on related disease. DXS7132 should be excluded when being used to distinguish diversity difference among populations.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 01/2008; 24(6):723-6.
[show abstract][hide abstract] ABSTRACT: As high polymorphism markers, STR loci have been widely used in studying population genetics. This review summarizes various genetic diversity parameters and analysis methods regarding to genotype frequency and allele frequency, including heterozygosity, polymorphism information content (PIC), linkage disequilibrium coefficients, inbreeding coefficients, genetic distance and fixation indices. The methods of statistical analysis included principal component analysis, phylogenetic trees, analysis of molecular variance (AMOVA), R matrix, GIS and spatial autocorrelation. By means of various parameters and methods, graphically and scientifically, we can describe and interpret several key issues in the study of population genetics, such as population genetic structure, population differentiation and human evolution.
[show abstract][hide abstract] ABSTRACT: To obtain the genetic polymorphism of Y chromosomal short tandem repeat (Y-STR) loci in Ningxia Hui population.
Blood samples were collected from 150 unrelated healthy male individuals of Ningxia Hui ethnic group. Twelve Y-STR loci were amplified in one tube by using the PowerPlex System STR Amplification Kit, and the genotypes were determined using Genescan and Genotype software of ABI377 DNA sequencer and the frequency of alleles and haplotypes of Ningxia Hui ethnic was obtained.
Seventy-five alleles were observed at 12 Y-STR loci. The frequency ranged from 0.0067-0.7067 and the gene diversity ranged from 0.4446-0.8877. Totally 148 different haplotypes were found, which were unique in 150 males. Two haplotypes were shared by 2 males respectively. The haplotype diversity was 0.9864.
The 12 Y-STR loci are highly polymorphic in Ningxia Hui population and are suitable for genetics and forensic research.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 11/2007; 24(5):594-7.
[show abstract][hide abstract] ABSTRACT: To validate the genetic characteristics and distribution of DXS7424-DXS101 on X chromosome in Han population.
DXS7424 and DXS101 loci were genotyped by PCR, PAGE and silvers stain methods. Their genetic parameters were analyzed by Arlequin software.
There were 37 haplotypes detected in 151 Han unrelated males. The frequencies ranged from 0.0066 to 0.1391, with a GD value of 0.9453 and a DP value of 0.9389. Haplotypes 16-23 were the most common haplotypes in Han population.
Analysis of combined DXS7424 and DXS101 haplotypes appears to be a powerful means in population genetics and forensic practice for determination of identity and paternity.
[show abstract][hide abstract] ABSTRACT: To investigate the alleles and genotype frequency of 8 short tandem repeat (STR) loci (DXS6804, DXS8378, DXS7132, DXS7133, DXS6789, DXS101, HPRTB and DXS7423) on the X chromosome in Luoba ethnic group of China.
The eight X chromosome STR (X-STR) loci were analyzed by polymerase chain reaction (PCR) followed by polyacylamide gel electrophoresis and silver stain.
Among 96 unrelated Luoba individuals, the numbers of alleles in the 8 X-STR loci (DXS7133, DXS6789, DXS6804, DXS8378, DXS101, DXS7424, DXS7132 and HPRTB) were 5, 8, 7, 5, 8, 8, 8 and 5, respectively. The genotype frequencies in females were in accordance with Hardy-Weinberg equilibrium.
The eight X-STR loci are appropriate for individual identification, paternity testing involving a female child and studies on related diseases.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 09/2007; 24(4):479-81.
[show abstract][hide abstract] ABSTRACT: To investigate the mitochondrial single nucleotide polymorphism (SNP)of Chinese Nu ethnic population from Yunnan region of China and to provide basic database for ethnic origin investigation and forensic purpose.
Genomic DNA from the whole blood of 87 unrelated individuals was extracted by standard chelex-100. The sequence polymorphism was analyzed by PCR-based assay and using ABI 3730 Analyzer to detect many number of relatively common point mutations.
Sixty-two SNP loci were observed among them with 492 point mutations and 59 haploids identified in mitochondrial DNA hypervariable region I (mtDNA HVSI). The gene diversity was estimated to be 0.9675,and the random match probability was calculated to be 0.0437.
The result suggests that mtDNA HVSISNP database of Nu ethnic population can be a useful tool for forensic identity and original research.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 07/2007; 24(3):354-7.
[show abstract][hide abstract] ABSTRACT: To investigate the polymorphism of C-stretch in mitochondrial DNA hyper-variant region and the values in forensic science.
The gene frequency were detected in such two loci of nt16180 and nt310 by using PCR-sequencing technique with two pair of primers according to the reference.
The length of PCR products were 807 bp and 962 bp respectively. Seven genotypes in each locus were detected. AAAACCCCCTCCCC allele amounted to 87.72% of all nt16180 genotype, while AAAACCCCCCCCCCCCC was firstly reported in Han population. CCCCCCCCTCCCCCC allele amounted to 60.53% of all nt310 genotype. 15 haplotypes were detected among 114 samples. The GD value was 0.6309. The AAAACCCCCTCCCC-CCCCCCCCTCCCCCC haplotype was the most high frequency and amounted to 57.89%.
The obtained basic genetic data in two loci of nt16180 and nt310 of mtDNA will be useful for forensic science.
[show abstract][hide abstract] ABSTRACT: To investigate the genetic polymorphism and applied value in forensic medicine of five short tandem repeats (STRs) loci(DXS7130, DXS7132, DXS7133, DXS6804 and DXS8378) on X-chromosome in Achang ethnic group.
Allele frequency and genotype distribution of five X-STR loci among 100 unrelated individuals from Achang ethnic group were analyzed by PCR following polyacrylamide gel electrophoresis and silver staining. Hardy-Weinberg equilibrium of females was tested and forensic parameters were calculated.
All the five STR loci were polymorphic in Achang ethnic group. Chi-square test indicated that genotype distribution of females was in accordance with Hardy-Weinberg equilibrium.
These results enrich Chinese genetic database and can be applied to individual identification, paternity testing and population genetics.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 04/2007; 36(2):185-90.