Background: The purpose of this study was to evaluate the association among serum organochlorine pesticide residues, glutathione S-transferase M1 genetic polymorphism and female breast cancer. Methods: A 1:1 matched c...Background: The purpose of this study was to evaluate the association among serum organochlorine pesticide residues, glutathione S-transferase M1 genetic polymorphism and female breast cancer. Methods: A 1:1 matched case-control study of 140 newly diagnosed breast cancer patients and 140 non-cancer female patients who consulted the five largest hospitals in the Tangshan city from September 2006 to October 2007. Results: The result showed higher risk of breast cancer among subjects with higher levels of serum DDT and HCH residue, the OR was 3.18 (95%CI, 1.11 - 9.07) and 5.02 (95%CI, 1.64 - 16.56).The value of ORe associated with single environmental factor DDT high residues, and ORg associated with single GSTM1 deletion genotype were respectively 3.86 (1.20 - 12.47) and 1.34 (0.36 - 5.08). The OReg associated with combined action of two factors was 5.59 (1.63 - 18.90), and the value of interaction parameters (γ) equaled 1.24. The value of ORe associated with single environmental factor HCH higher residue and ORg associated with single GSTM1 deletion genotype were respectively 2.73 (0.84 - 8.87) and 1.48 (0.49 - 4.60). The value of OReg associated with combined action of two factors was 3.87 (1.18 - 12.68), and γ equaled 1.38. Conclusion: The results indicated that breast cancer occurrence was the combined result of environmental and genetic factors. The concurrent action of GSTM1 deletion genotype and DDT/HCH enhanced the risk of breast cancer.展开更多
The dopamine transporter (DAT) is responsible for dopamine reuptake from the synaptic cleft. A variable number of tandem repeats polymorphism in the DAT gene is related to DAT availability and has been associated wi...The dopamine transporter (DAT) is responsible for dopamine reuptake from the synaptic cleft. A variable number of tandem repeats polymorphism in the DAT gene is related to DAT availability and has been associated with cognition. With the advantage of high-time resolution, event-related potential is an important method to study the time course of human information processing. Previous results have suggested that dopamine exhibits a close relationship with conflicting information processing. Therefore, the present study assumed that conflicting information processing could be influenced by DAT variable number of tandem repeats polymorphism. To confirm this, the present study analyzed the influence of DAT genotypes on N270, which is presumed to reflect neural activity of conflict information processing in young healthy adults. A S1-S2 matching task was performed in healthy adults with 10/10 genotype (n = 14) and 10/9 genotypes (n = 14), respectively, when event-related potentials were recorded. Results demonstrated that subjects with the 10/10 genotype exhibited shorter N270 latency and quicker reaction times compared with subjects with the 10/9 genotype. There were no differences in N270 amplitude between the two genotypes. These results suggested that 10/10 genotype subjects more efficiently processed conflict information.展开更多
Objective:To explore the relationship between polymorphism of α2-macroglobulin(A2M) gene and Parkinson’s disease(PD)in Han Nationality in Shanghai.Methods:The distributions of A2M gene polymorphism (a Val1000Ile in ...Objective:To explore the relationship between polymorphism of α2-macroglobulin(A2M) gene and Parkinson’s disease(PD)in Han Nationality in Shanghai.Methods:The distributions of A2M gene polymorphism (a Val1000Ile in exon24, V/I)were detected in 66 PD patients and 120 healthy controls using polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) method. Results:The I allelic frequency in A2M exon24 gene of PD patients(90.9%) was significantly lower than that of the healthy controls(96.3%)(OR=0.39,P=0.033),so was the I/I genotype(OR=0.32,P=0.015), especially in the patients more than 60 years old(OR=0.31,P=0.04).Conclusion:The I allele in exon24 of A2M gene might inhibit the onset of PD in Han Nationality in Shanghai.展开更多
AIM: To investigate the three important cystic fibrosis transmembrane conductance regulator (CFTR) haplotypes poly-T, TG-repeats and the M470V polymorphisms in the Chinese population, and to compare their distribution...AIM: To investigate the three important cystic fibrosis transmembrane conductance regulator (CFTR) haplotypes poly-T, TG-repeats and the M470V polymorphisms in the Chinese population, and to compare their distribution with that in Caucasians and other Asian populations. METHODS: Genomic DNA was extracted from blood leukocytes. Exons 9 and 10 of the CFTR gene were obtained through polymerase chain reaction (PCR). Exon 9 DNA sequences were directly detected by an automated sequencer and poly-T and TG-repeats were identified by direct sequence analysis. Pure exon 10 PCR-amplified products were digested by HphⅠ restriction enzyme and the M470V mutation was detected by the AGE photos of digestion products. RESULTS: T7 was the most common (93.6%) haplotype and the (TG)11 frequency of 57.2% and (TG)12 frequency of 40.9% were dominant haplotypes in the junction of intron 8 (IVS-8) and exon 9. The frequency of T5 was 3.8% and all T5 allele tracts (10 alleles) were joined with (TG)12. Four new alleles of T6 (1.5%) were found in three healthy individuals. In exon 10, the V allele (56.1%) was slightly more frequent than the M allele (43.9%), and the M/V (45.5%) was the dominant genotype in these individuals. The three major haplotypes T7-(TG)11-V470, T7-(TG)12-M470 and T7-TG11-M470 were related to nearly 86.0% of the population. CONCLUSION: The polymorphisms of poly-T, TG-repeats, and M470V distribution were similar to those in other East Asians, but they had marked differences in frequency from those single haplotype polymorphisms or linkage haplotypes in Caucasians. Thus, they may be able to explain the low incidence of CF and CF-like diseases in Asians.展开更多
Endothelial PAS domain protein 1 gene (EPAS1) is a key transcription factor that activates the expression of oxygen-regu- lated genes. In this study, in order to better understand the effects of EPAS1 gene on hemato...Endothelial PAS domain protein 1 gene (EPAS1) is a key transcription factor that activates the expression of oxygen-regu- lated genes. In this study, in order to better understand the effects of EPAS1 gene on hematologic parameters in yak, we firstly quantified the tissue expression patterns for EPASl mRNA of yak, identified polymorphism in this gene and evaluated its association with hematologic parameters. Expression of EPAS1 mRNA was detected in all eight tissues (heart, liver, lung, spleen, pancreas, kidney, muscles and ovary). The expressions of EPAS1 in lung and pancreas were extremely higher than other tissues examined. Three novel single nucleotide polymorphisms (SNPs) (g.83052 C〉T, g.83065 G〉A and g.83067 C〉A) within the EPAS1 were identified and genotyped in Pali (PL), Gannan (GN) and Tianzhu White (TZW) yak breeds. Significant higher frequencies of the AA and GA genotypes and A allele of the g.83065 G〉A were observed in the PL and GN breeds than that in the TZW breed (P〈0.01). Association analysis of the PL breed indicated that the g.83065 G〉A polymorphism was significantly associated with hemoglobin (HGB) concentration in yaks (P〈0.05). Individuals with genotype AA had significantly higher HGB concentration (P〈0.05) than those with genotype GA and GG. All these results will help our further understanding of biological functional of yak EPAS1 gene in responding to hypoxia and also indicate EPAS1 might contribute to the hypoxia adaptation of the yak.展开更多
The recently discovered tetragonal, monoclinie and orthorhombic polymorphs of M3N4 (M=C, Si, Sn) are in- vestigated by using first-principles calculations. A set of anisotropic elastic quantities, i.e., the bulk and...The recently discovered tetragonal, monoclinie and orthorhombic polymorphs of M3N4 (M=C, Si, Sn) are in- vestigated by using first-principles calculations. A set of anisotropic elastic quantities, i.e., the bulk and shear moduli, Young's modulus, Poisson ratio, H/G ratio and rickets hardness of M3N4 (M=C, Si, Sn) are predicted. The quasi-harmonic Debye model, assuming that the solids are isotopic, may lead to large errors for the non-cubic crystals. The thermal effects are obtained by the traditional quasi-harmonic approach. The dependences of heat capacity, thermal expansion coefficient and Debye temperature on temperature and pressure are systematically discussed in the pressure range of 0 IOGPa and in the temperature range of 0-1100 K. More importantly, o- C3N4 is a negative thermal expansion material. Our results may have important consequences in shaping the understanding of the fundamental properties of these binary nitrides.展开更多
Root knot nematodes are top priority nematode pests that significantly constrain agricultural productivity globally especially in developing countries. However, expressing double stranded RNA (dsRNA) of essential nema...Root knot nematodes are top priority nematode pests that significantly constrain agricultural productivity globally especially in developing countries. However, expressing double stranded RNA (dsRNA) of essential nematode genes in susceptible plants is known to confer protection against these pests via RNA silencing. This molecular-based strategy is called host induced gene silencing (HIGS) and the selection of appropriate target nematode gene is critical to its success. In this study, therefore, we focused on root knot nematode PolA1, an essential single copy nuclear gene encoding the largest subunit of RNA polymerase I enzyme and evaluated its effectiveness as a target in conferring nematode resistance on Agrobacterium-mediated transformed tobacco plants. Transgenic tobacco expressing Meloidogyne incognita-specific (MiS) dsRNA of PolA1 gene showed significant reduction in nematode fecundity and multiplication compared to wild type plants in both T0 and T1 generations. T0 plants showed varying degrees of agronomic vigorover WT plants possibly due to varying levels of processed siRNA. However, production of MiS siRNAs in the transgenic plants coupled with significant reduction of PolA1 transcript expression in nematodes feeding on roots of transgenic plants provided evidence of HIGS. Taken together, our results show that PolA1 is a potentially effective target for HIGS-mediated reduction of root knot nematode damage on transgenic tobacco. Given the homology of our target sequence among Meloidogyne species, this protection could be broad range against other root knot nematodes aside M. incognita.展开更多
文摘Background: The purpose of this study was to evaluate the association among serum organochlorine pesticide residues, glutathione S-transferase M1 genetic polymorphism and female breast cancer. Methods: A 1:1 matched case-control study of 140 newly diagnosed breast cancer patients and 140 non-cancer female patients who consulted the five largest hospitals in the Tangshan city from September 2006 to October 2007. Results: The result showed higher risk of breast cancer among subjects with higher levels of serum DDT and HCH residue, the OR was 3.18 (95%CI, 1.11 - 9.07) and 5.02 (95%CI, 1.64 - 16.56).The value of ORe associated with single environmental factor DDT high residues, and ORg associated with single GSTM1 deletion genotype were respectively 3.86 (1.20 - 12.47) and 1.34 (0.36 - 5.08). The OReg associated with combined action of two factors was 5.59 (1.63 - 18.90), and the value of interaction parameters (γ) equaled 1.24. The value of ORe associated with single environmental factor HCH higher residue and ORg associated with single GSTM1 deletion genotype were respectively 2.73 (0.84 - 8.87) and 1.48 (0.49 - 4.60). The value of OReg associated with combined action of two factors was 3.87 (1.18 - 12.68), and γ equaled 1.38. Conclusion: The results indicated that breast cancer occurrence was the combined result of environmental and genetic factors. The concurrent action of GSTM1 deletion genotype and DDT/HCH enhanced the risk of breast cancer.
文摘The dopamine transporter (DAT) is responsible for dopamine reuptake from the synaptic cleft. A variable number of tandem repeats polymorphism in the DAT gene is related to DAT availability and has been associated with cognition. With the advantage of high-time resolution, event-related potential is an important method to study the time course of human information processing. Previous results have suggested that dopamine exhibits a close relationship with conflicting information processing. Therefore, the present study assumed that conflicting information processing could be influenced by DAT variable number of tandem repeats polymorphism. To confirm this, the present study analyzed the influence of DAT genotypes on N270, which is presumed to reflect neural activity of conflict information processing in young healthy adults. A S1-S2 matching task was performed in healthy adults with 10/10 genotype (n = 14) and 10/9 genotypes (n = 14), respectively, when event-related potentials were recorded. Results demonstrated that subjects with the 10/10 genotype exhibited shorter N270 latency and quicker reaction times compared with subjects with the 10/9 genotype. There were no differences in N270 amplitude between the two genotypes. These results suggested that 10/10 genotype subjects more efficiently processed conflict information.
文摘Objective:To explore the relationship between polymorphism of α2-macroglobulin(A2M) gene and Parkinson’s disease(PD)in Han Nationality in Shanghai.Methods:The distributions of A2M gene polymorphism (a Val1000Ile in exon24, V/I)were detected in 66 PD patients and 120 healthy controls using polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) method. Results:The I allelic frequency in A2M exon24 gene of PD patients(90.9%) was significantly lower than that of the healthy controls(96.3%)(OR=0.39,P=0.033),so was the I/I genotype(OR=0.32,P=0.015), especially in the patients more than 60 years old(OR=0.31,P=0.04).Conclusion:The I allele in exon24 of A2M gene might inhibit the onset of PD in Han Nationality in Shanghai.
基金Supported by The Key Talent of Traditional Chinese Medicine, Foundation from the Government of Jiangsu Province, No. [2007] 158
文摘AIM: To investigate the three important cystic fibrosis transmembrane conductance regulator (CFTR) haplotypes poly-T, TG-repeats and the M470V polymorphisms in the Chinese population, and to compare their distribution with that in Caucasians and other Asian populations. METHODS: Genomic DNA was extracted from blood leukocytes. Exons 9 and 10 of the CFTR gene were obtained through polymerase chain reaction (PCR). Exon 9 DNA sequences were directly detected by an automated sequencer and poly-T and TG-repeats were identified by direct sequence analysis. Pure exon 10 PCR-amplified products were digested by HphⅠ restriction enzyme and the M470V mutation was detected by the AGE photos of digestion products. RESULTS: T7 was the most common (93.6%) haplotype and the (TG)11 frequency of 57.2% and (TG)12 frequency of 40.9% were dominant haplotypes in the junction of intron 8 (IVS-8) and exon 9. The frequency of T5 was 3.8% and all T5 allele tracts (10 alleles) were joined with (TG)12. Four new alleles of T6 (1.5%) were found in three healthy individuals. In exon 10, the V allele (56.1%) was slightly more frequent than the M allele (43.9%), and the M/V (45.5%) was the dominant genotype in these individuals. The three major haplotypes T7-(TG)11-V470, T7-(TG)12-M470 and T7-TG11-M470 were related to nearly 86.0% of the population. CONCLUSION: The polymorphisms of poly-T, TG-repeats, and M470V distribution were similar to those in other East Asians, but they had marked differences in frequency from those single haplotype polymorphisms or linkage haplotypes in Caucasians. Thus, they may be able to explain the low incidence of CF and CF-like diseases in Asians.
基金supported by the Special Fund for Agro-scientific Research in the Public Interest,China (201003061)the Key Technologies R&D Program of China during the 12thFive-Year Plan period (2012BAD13B05)+1 种基金the Great Project of Science and Technology of Gansu Province in China (1102NKDA027)the National Natural Science Foundation of China (31101702)
文摘Endothelial PAS domain protein 1 gene (EPAS1) is a key transcription factor that activates the expression of oxygen-regu- lated genes. In this study, in order to better understand the effects of EPAS1 gene on hematologic parameters in yak, we firstly quantified the tissue expression patterns for EPASl mRNA of yak, identified polymorphism in this gene and evaluated its association with hematologic parameters. Expression of EPAS1 mRNA was detected in all eight tissues (heart, liver, lung, spleen, pancreas, kidney, muscles and ovary). The expressions of EPAS1 in lung and pancreas were extremely higher than other tissues examined. Three novel single nucleotide polymorphisms (SNPs) (g.83052 C〉T, g.83065 G〉A and g.83067 C〉A) within the EPAS1 were identified and genotyped in Pali (PL), Gannan (GN) and Tianzhu White (TZW) yak breeds. Significant higher frequencies of the AA and GA genotypes and A allele of the g.83065 G〉A were observed in the PL and GN breeds than that in the TZW breed (P〈0.01). Association analysis of the PL breed indicated that the g.83065 G〉A polymorphism was significantly associated with hemoglobin (HGB) concentration in yaks (P〈0.05). Individuals with genotype AA had significantly higher HGB concentration (P〈0.05) than those with genotype GA and GG. All these results will help our further understanding of biological functional of yak EPAS1 gene in responding to hypoxia and also indicate EPAS1 might contribute to the hypoxia adaptation of the yak.
基金Supported by the National Natural Science Foundation of China under Grant Nos 61475132 and 61501392
文摘The recently discovered tetragonal, monoclinie and orthorhombic polymorphs of M3N4 (M=C, Si, Sn) are in- vestigated by using first-principles calculations. A set of anisotropic elastic quantities, i.e., the bulk and shear moduli, Young's modulus, Poisson ratio, H/G ratio and rickets hardness of M3N4 (M=C, Si, Sn) are predicted. The quasi-harmonic Debye model, assuming that the solids are isotopic, may lead to large errors for the non-cubic crystals. The thermal effects are obtained by the traditional quasi-harmonic approach. The dependences of heat capacity, thermal expansion coefficient and Debye temperature on temperature and pressure are systematically discussed in the pressure range of 0 IOGPa and in the temperature range of 0-1100 K. More importantly, o- C3N4 is a negative thermal expansion material. Our results may have important consequences in shaping the understanding of the fundamental properties of these binary nitrides.
文摘Root knot nematodes are top priority nematode pests that significantly constrain agricultural productivity globally especially in developing countries. However, expressing double stranded RNA (dsRNA) of essential nematode genes in susceptible plants is known to confer protection against these pests via RNA silencing. This molecular-based strategy is called host induced gene silencing (HIGS) and the selection of appropriate target nematode gene is critical to its success. In this study, therefore, we focused on root knot nematode PolA1, an essential single copy nuclear gene encoding the largest subunit of RNA polymerase I enzyme and evaluated its effectiveness as a target in conferring nematode resistance on Agrobacterium-mediated transformed tobacco plants. Transgenic tobacco expressing Meloidogyne incognita-specific (MiS) dsRNA of PolA1 gene showed significant reduction in nematode fecundity and multiplication compared to wild type plants in both T0 and T1 generations. T0 plants showed varying degrees of agronomic vigorover WT plants possibly due to varying levels of processed siRNA. However, production of MiS siRNAs in the transgenic plants coupled with significant reduction of PolA1 transcript expression in nematodes feeding on roots of transgenic plants provided evidence of HIGS. Taken together, our results show that PolA1 is a potentially effective target for HIGS-mediated reduction of root knot nematode damage on transgenic tobacco. Given the homology of our target sequence among Meloidogyne species, this protection could be broad range against other root knot nematodes aside M. incognita.