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ABSTRACT: Aims: This study explores more polymorphisms in Disrupted-in-schizophrenia-1 (DISC1) for schizophrenia, which confer risk of developing the disorder. Results: We report three short tandem repeat (STR) loci ((ATCC)n1, D1S1621, and (ATCC)n2) in DISC1 that showed a significant association with schizophrenia in a set of Chinese Han individuals, including 310 schizophrenics and 400 controls. The STRs in DISC1 associated with schizophrenia occur in intronic sequences in the vicinity of a critical splice junction that gives rise to the expression of DISC1 isoforms. The frequencies of allele 12 of (ATCC)n1, alleles 11 and 12, allele 13 and allele 15 of D1S1621, and allele 10 of (ATCC)n2 were significantly higher in schizophrenia patients than in controls. In contrast, the frequencies of alleles 9 and 10 of (ATCC)n1 and allele 16 and alleles17 and 18 of D1S1621 were significantly lower in schizophrenia patients than in controls. Conclusions: Our results provide further evidence for an effect of the DISC1 gene on the etiology of schizophrenia and suggest that STRs in the DISC1 gene may be genetic risk factors for schizophrenia.
Genetic Testing and Molecular Biomarkers 04/2013; · 1.11 Impact Factor
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ABSTRACT: Memory modulation is implemented through many different factors, such as the dopaminergic system and ovarian hormones. Alterations of these factors may cause memory behavior changes. In the current study, dopamine D3 receptor mutant (D3(-/-)) female mice and their wild-type (WT) controls were used and randomly assigned to ovariectomized (OVX) and sham-operated (Sham) groups (four groups: WT-OVX, WT-Sham, D3(-/-)-OVX, and D3(-/-)-Sham). The possibility of co-effects of the dopamine D3 receptor and ovarian hormones on cognitive behavior was then examined. The spatial reference memory (SRM) and the motivation to escape from the water maze were not affected by either knockout of the dopamine D3 receptor or ovariectomy. Knockout of the dopamine D3 receptor had no effect on spatial working memory (SWM) in the Sham groups, but had a positive effect on SWM in the OVX groups. While an ovariectomy inhibited SWM in WT mice, it had no effect on SWM in D3(-/-) mice. These data suggested that ovarian hormone deprivation may induce spatial working memory decline, and blockade of D3 receptors could ameliorate this impairment. Based on our findings, there may be specific molecular changes responsible for the function of D3 receptors in modulating information processes under conditions of ovarian hormone deficit, which need to be further elucidated.
Behavioural brain research 03/2013; · 3.22 Impact Factor
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ABSTRACT: It has been reported that two new schizophrenia susceptibility loci (2q32.3 and 8q21.3) containing two single-nucleotide polymorphisms (SNPs; rs17662626 and rs7004633) have been identified in Europeans by a genome-wide association study. To determine if the two regions are associated with schizophrenia in Han Chinese, which are distinct from Europeans, we analyzed 9 SNPs, including rs17662626 and rs7004633, within 2 regions involving 1430 cases and 1570 controls from the Han population. Single SNP association, haplotype association, and gender-specific association analyses were performed. Single SNP analyses revealed that there was no association with schizophrenia in the region of 2q32.3, but rs7004633 mapping to the region of 8q21.3 was significantly associated with schizophrenia (p = 5.1 × 10(-5); OR = 1.274; 95% CI, 1.134-1.429). Further genotype and haplotype association analyses for the region of 8q21.3 suggested a similar pattern. Additionally, analyses by haplotypes indicated that a haplotype block in the region of 8q21.3 highly associated with schizophrenia and one haplotype in this haploblock had a 1.5-fold increase in the cases. Our results provide further evidence regarding the association of the region of 8q21.3 with schizophrenia in Han Chinese, as well as Europeans, which confirmed the previous report that 8q21.3 may play important roles in the etiology of schizophrenia.
Journal of psychiatric research 03/2013; · 3.72 Impact Factor
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ABSTRACT: Recently, a new schizophrenia susceptibility locus 10q24.32-q24.33, containing two single-nucleotide polymorphisms (SNPs: rs7914558 and rs11191580), was identified in a genome-wide association study. To examine if this locus is associated with schizophrenia in the Han Chinese population, we analyzed six SNPs, including two SNPs within the region of interest. The sample consisted of 1430 schizophrenia cases and 1570 controls from genetically independent members of the Han population. Single-SNP association, haplotype association and sex-specific association analyses were performed. Three SNPs, rs7914558 (p=1.41×10(-4); OR=1.11; 95% CI 1.05-1.17), rs12220375 (p=1.18×10(-4); OR=1.06; 95% CI 1.03-1.09) and rs11191580 (p=3.03×10(-4); OR=1.05; 95% CI 1.02-1.10), mapped to the locus and were significantly associated in our sample set. Further genotype and haplotype association analyses suggested a similar pattern. Similar to results from European populations, our results provide further evidence that this region associated with schizophrenia in Han Chinese. Results also confirm previous reports suggesting that 10q24.32-q24.33 offers an intriguing new insight into the pathogenesis of schizophrenia and may play an important role in its etiology.
Biological Psychiatry 04/2012; 138(1):63-8. · 8.28 Impact Factor
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ABSTRACT: The phosphodiesterase 4B (PDE4B) is a candidate susceptibility gene for schizophrenia (SCZ), interacting with DISC1, a known genetic risk factor for SCZ. To examine if variants within PDE4B gene are associated with SCZ in Northwestern Han Chinese, and if these effects vary in gender-specific subgroup, we analyzed 20 SNPs, selected from previous studies and preliminary HapMap data analyses with minor allele frequency (MAF) ≥ 20%, in a cohort of 428 cases and 572 controls from genetically independent Northwestern Han Chinese. Single SNP association, haplotype association and sex-specific association analysis were performed. We found that rs472952 is significantly associated with SCZ and rs7537440 is associated with SCZ in females. Further analysis indicated that a haplotype block spanning PDE4B2 splice site is highly associated with SCZ and several haplotypes in this block have about twofold to threefold increase in cases. Our results provide further evidence that PDE4B may play important roles in the etiology of SCZ.
Human Genetics 12/2011; 131(7):1047-56. · 5.07 Impact Factor
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ABSTRACT: In the present study, 10 short tandem repeats (STR) (HPRTB, DXS6789, DXS6799, DXS6804, DXS7130, DXS7132, DXS7133, DXS7423, DXS7424, and DXS8378) on X chromosome were investigated among four ethnic populations (431 individuals) in northwest of China, in order to learn about the genetic diversity, forensic suitability, and possible genetic affinities of the populations. The polymorphism information content (PIC) values for the ten loci range from 0.340 to 0.810, and the observed heterozygosity values for the ten loci range from 0.397 to 0.860, the results indicated that the ten loci have a moderate degree of variability in the four populations, and each population has its own characteristics of genetic structure. A Neighbor-joining (NJ) tree constructed on the basis of the generated data shows very low genetic distance between Han, Mongolian and Tibetan, Dongxiang and Tu as well as between Salar and Bonan populations. Our results based on genetic distance analysis are consistent with the results of earlier studies based on linguistics and the immigration history and origin of these populations. These STR loci on the X chromosome studied here are not only useful in showing significant genetic variation between the populations, but also are suitable for human identity testing among the four populations.
Molecular Biology Reports 08/2011; 39(4):4077-81. · 2.93 Impact Factor
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ABSTRACT: Obesity with excessive levels of circulating free fatty acids (FFAs) is tightly linked to the incidence of type 2 diabetes. Insulin resistance of peripheral tissues and pancreatic β-cell dysfunction are two major pathological changes in diabetes and both are facilitated by excessive levels of FFAs and/or glucose. To gain insight into the mitochondrial-mediated mechanisms by which long-term exposure of INS-1 cells to excess FFAs causes β-cell dysfunction, the effects of the unsaturated FFA linoleic acid (C 18:2, n-6) on rat insulinoma INS-1 β cells was investigated. INS-1 cells were incubated with 0, 50, 250 or 500 μM linoleic acid/0.5% (w/v) BSA for 48 h under culture conditions of normal (11.1 mM) or high (25 mM) glucose in serum-free RPMI-1640 medium. Cell viability, apoptosis, glucose-stimulated insulin secretion, Bcl-2, and Bax gene expression levels, mitochondrial membrane potential and cytochrome c release were examined. Linoleic acid 500 μM significantly suppressed cell viability and induced apoptosis when administered in 11.1 and 25 mM glucose culture medium. Compared with control, linoleic acid 500 μM significantly increased Bax expression in 25 mM glucose culture medium but not in 11.1 mM glucose culture medium. Linoleic acid also dose-dependently reduced mitochondrial membrane potential (ΔΨm) and significantly promoted cytochrome c release from mitochondria in both 11.1 mM glucose and 25 mM glucose culture medium, further reducing glucose-stimulated insulin secretion, which is dependent on normal mitochondrial function. With the increase in glucose levels in culture medium, INS-1 β-cell insulin secretion function was deteriorated further. The results of this study indicate that chronic exposure to linoleic acid-induced β-cell dysfunction and apoptosis, which involved a mitochondrial-mediated signal pathway, and increased glucose levels enhanced linoleic acid-induced β-cell dysfunction.
Endocrine 12/2010; 39(2):128-38. · 1.42 Impact Factor
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ABSTRACT: There is evidence indicating that the brain's dopaminergic system is involved in age-associated memory impairment. However, specific roles in this process for the different dopamine receptor subtypes have not been elucidated. The cAMP-response element binding protein (CREB) is one of the cellular molecules that have been strongly implicated in the synaptic plasticity deficits occurring in age-related memory and cognitive impairment. In the present study, dopamine D(3) receptor mutant mice were tested in the Morris water maze task. We found that aged D(3) receptor mutant mice perform comparatively better than their even-aged wild-type counterparts in both spatial learning training and a subsequent memory test. The degree of hippocampal CREB phosphorylation is significantly higher in aged D(3) receptor mutants compared to aged wild-type mice, whereas no difference in CREB activation was observed in the prefrontal cortex. These results suggest that blockade of D(3) receptors ameliorates age-related memory decline and that D(3) receptor-regulated CREB signaling in the hippocampus may be involved in these age-associated alterations.
Neuroscience Letters 09/2010; 481(3):149-53. · 2.11 Impact Factor
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ABSTRACT: The population genetic data of 10 X-chromosomal short tandem repeats (STR) loci DXS101, DXS7130, DXS6804, DXS7133, DXS7132, DXS6799, DXS8378, DXS6789, DXS7423 and HPRTB were analyzed in samples of unrelated individuals from Chinese Daur population. Average heterozygosity of above 10 STR loci was 0.6489 and the DXS6789 was the most polymorphic. The exact test for female data showed no significant deviation from the Hardy-Weinberg equilibrium (P>0.05). Allele frequencies between male and female samples were not significantly different in all examined loci. Further, the allelic frequencies of Daur ethnic population were compared with those of other populations, and most of loci were significantly different from each other (P=0.05). Presented study is potential extension to a battery of autosomal systems in forensic application in the region, and enriches Chinese ethnical genetic informational resources.
Legal Medicine 06/2009; 11(3):152-4.
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ABSTRACT: To determine genetic polymorphisms at human leukocyte antigen (HLA)-A, -B, and -DRB1 loci in Han population of Xi'an city in China.
Polymerase chain reaction-based reverse line-strip sequence specific oligonucleotide hybridization was used to determine the alleles of HLA-A, -B, and -DRB1 in 516 unrelated, healthy individuals of Han population in Xi'an. Allele frequencies at HLA-A, -B, and -DRB1 loci were estimated by direct counting method. Haplotype frequencies were calculated from genotype data by expectation maximization.
A total of 14 alleles of HLA-A, 33 alleles of HLA-B, and 13 alleles of HLA-DRB1 were found. The most common alleles were HLA-A*02 (28.39%), A*11 (19.19%), and A*24 (16.28%); HLA-B*13 (11.05%), B*15 (B62: 9.30%), and B*51 (8.53%); and HLA-DRB1*15 (17.15%), DRB1*09 (13.18%), and DRB1*04 (10.85%). The most common haplotypes of HLA-A-B-DRB1 haplotype were HLA-A*30-B*13-DRB1*07 (3.93%), HLA-A*02-B*46-DRB1*09 (3.20%), and HLA-A*33-B*58-DRB1*17 (1.63%).
The finding that the HLA loci are highly polymorphic in Han population of Xi'an City may be useful for population genetics, HLA-related studies, human identification, and paternity tests in forensic sciences.
Croatian Medical Journal 09/2008; 49(4):476-82. · 1.80 Impact Factor
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ABSTRACT: The PowerPlex 16 amplification kit was used for the analysis of allele frequencies for the 15 STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX and FGA) in unrelated, autochthonous healthy adults from Kashmiri refugee population in Pakistani Punjab (n=125). The allelic distributions were in Hardy-Weinberg equilibrium in all of loci examined except for the vWA locus. Forensic parameters were calculated and a comparison was made with geographically nearby populations.
Legal Medicine 08/2008; 10(4):216-9.
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ABSTRACT: Twelve Y-STRs loci including minimal haplotypes (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, and DYS385a,b) and three additional loci, namely DYS437, DYS438 and DYS439 were co-amplified in 138 healthy unrelated males of Chinese Naxi ethnic minority group using the PowerPlex Y System. A total of 113 haplotypes were identified, among which 103 were unique, and 6, 2, 1 and 1 were found in 2, 4, 5 and 10 individuals, respectively. The haplotype diversity for 12 Y-STRs loci was 0.9923.The results from the present study can be used in forensic application and population genetics in the region, and can enrich Chinese ethnical genetic informational resources.
Forensic science international 02/2008; 174(2-3):244-8. · 2.10 Impact Factor
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ABSTRACT: More recently, forensic interest has focused on X-chromosomal markers and which are especially useful in paternity cases with daughters. Genetic polymorphism studies at 10 short tandem repeat (STR) loci on the X-chromosome (DXS6804, DXS6799, DXS8378, DXS7130, DXS7132, HPRTB, DXS7133, DXS7423, DXS101 and DXS6789) were carried out in Yunnan Nu population of China. We aimed at increase in pool of forensically relevant data for allele distribution and frequency of X-chromosomal STRs. Statistical analysis and forensic efficiency data show no deviations from Hardy-Weinberg equilibrium.
Legal Medicine 10/2007; 9(5):284-6.
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Journal of Forensic Sciences 12/2006; 51(6):1408-9. · 1.23 Impact Factor
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ABSTRACT: Benign familial infantile seizures (BFIS) is a form of idiopathic epilepsy characterized by clusters of afebrile seizures occurring around the sixth month of life and a favorable outcome. Linkage analysis has revealed that three chromosomal segments, 19q12-q13.1, 16p12-q12, and 2q23-31, are linked to this disorder.
We report here a large Chinese family in which all 17 affected members had had infantile seizures with onset at age 2-4 months, with two of these also manifesting seizures later in life accompanied with either choreoathetosis or myokymia. Linkage analysis in this family confirmed a previous report of genetic heterogeneity in BFIS - since linkage was excluded at the above-mentioned known BFIS loci - and suggested a possible linkage to the KCNQ2 gene, which is believed to be a voltage gated potassium channel gene responsible for benign familial neonatal seizures (BFNS).
Sequencing of the KCNQ2 gene revealed that all 17 affected family members carried a heterozygous Gly-to-Val (G271V) mutation in the conserved pore region that resulted from a guanine-to-thymine transition in exon 5 of KCNQ2. The same mutation with a comparable localization in the KCNQ3 (G310V) gene has been found in BFNS patients. The same conserved amino acid was also found to be mutated in the KCNQ1 gene in a family with Long QT Syndrome.
European Journal of Pediatrics 11/2006; 165(10):691-5. · 1.88 Impact Factor
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Bofeng Zhu,
Shunzhi Liu,
Dan Ci,
Jingfeng Huang,
Youcai Wang,
Liping Chen,
Jun Zhu,
Yongcheng Xu,
Qianzi Zhao, Shengbin Li,
Yao Liu
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ABSTRACT: Y-chromosomal STRs loci were analyzed from a sample of 119 healthy unrelated autochthonous male individuals of Chinese Tibetan ethnic minority group using a multiplex PCR system. Allele and haplotype frequencies for DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS438, and DYS439 were determined by the Y-PLEXtrade mark 12 kit. The gene diversity values for the Y-STRs loci ranged from 0.3347 (DYS438) to 0.9547 (DYS385a,b). A total of 110 haplotypes were identified in the Y-STR loci, among which 104 were unique, while six occurred more than once. The overall haplotype diversity for the Y-STRs loci was 0.9981, and the discrimination capacity was 0.9897. The results in the present study can be used for routine forensic application in the region, and enrich Chinese ethnical genetic informational resources.
Forensic Science International 09/2006; 161(1):78-83. · 2.30 Impact Factor
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ABSTRACT: POPULATIONS: The population studied was the Tujia population, living in the Hunan Province, China. Their ancestors had lived in the region for at least three generations. As a Chinese minority group, the Tujia ethnic group, with a population of 8,028,133 (year of 2000), is mainly distributed in the Wuling mountain area in the three provinces of Hunan, Hubei, and Sichuan. The Tujia population have their own language, which belongs to the Tibetan-Myanmese Language Group of the Chinese-Tibetan Language Family, but the large majority have come to speak the Han and Miao languages, now that the Tujias have been largely assimilated.
Journal of Forensic Sciences 06/2006; 51(3):709-10. · 1.23 Impact Factor
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ABSTRACT: X-chromosome STR, known as microsatellite, is a kind of the most information genetic markers for specific biological materials. Because the size of X-chromosome STR alleles is small, generally including 100-350 nucleotides, it is relatively easy to be amplified and detected with high sensitivity. We have investigated 10 X-chromosome STR loci in an Ewenke ethnic population who live in Neimengu of northeast China. Allele frequencies of 10 X-chromosome STR loci, including DXS7133, DXS6799, DXS8378, DXS7423, DXS6804, HPRTB, DXS7424, DXS7132, DXS6789 and DXS101, were obtained from healthy unrelated individuals (45 females and 53 males) of Ewenke ethnic group.
Forensic Science International 05/2006; 158(1):72-5. · 2.30 Impact Factor
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ABSTRACT: Genetic diversity at 10 X-chromosome STR loci has been approved and widely used for forensic science field. In this paper, we have studied this genetic diversity in various Mongol ethnic group with geographic backgrounds. Allele frequencies of 10 X-chromosome STR loci, including DXS7133, DXS6799, DXS8378, DXS7423, DXS6804, HPRTB, DXS7424, DXS7132, DXS6789 and DXS101, were obtained from healthy unrelated individuals (53 females and 47 males) of Mongol ethnic group lived in north China. Gene diversity analysis showed that the average heterozygosity was uniformly high (0.687) in the studied population. The coefficient of PIC was 0.99998.
Forensic Science International 05/2006; 158(1):76-9. · 2.30 Impact Factor
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ABSTRACT: Allele frequencies for the nine short tandem repeat (STR) loci (D3S1358, FGA, TH01, D7S820, VWA, CSF1PO, D5S818, D13S317, TPOX) were determined in a sample of 120 unrelated individuals of the Baoan ethnic group living in northwest China. The values of observed heterozygosity (H), discrimination power (DP), a priori chance of exclusion (CE) and polymorphism information content (PIC) were calculated. All loci were in accordance with Hardy-Weinberg equilibrium (P=0.05). The obtained frequency distributions were compared with other previously reported population data.
Forensic Science International 04/2006; 157(2-3):218-20. · 2.30 Impact Factor
