AIM: To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer (HNPCC) in suspected Chinese patients. METHODS: Five independent Chinese ki...AIM: To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer (HNPCC) in suspected Chinese patients. METHODS: Five independent Chinese kindreds with HNPCC fulfilling the classical Amsterdam criteria were collected. Genomic DNA was extracted after informed consent was obtained. The coding region of hMSH2 and hMLH1 genes was detected by polymerase chain reaction (PCR) and denaturing high-performance liquid chromatography (DHPLC). Mutations identified in the proband by DHPLC were directly sequenced using a 377 DNA sequencer, analyzed with a basic local alignment tool (BLAST), and tested in the corresponding family members by direct DNA sequencing. RESULTS: Mutations were identified in two Chinese HNPCC kindreds. One was the missense mutation of hMSH2 c.1808A→G resulting in Asp 603 Gly identified in the proband of the fifth HNPCC (HNPCCS) kindred. In the HNP5 kindred, three family members were found to have this mutation and two of them had colorectal cancer. The other mutation of hMLH1 c.1882A→G was identified in the HNP2 kindred's proband, which might be the nonsense mutation analyzed by BLAST. CONCLUSION: Pedigree investigation and mutation testing of hMSH2 and hMLH1 are the practical methods to identify high-risk HNPCC patients in China.展开更多
AIM: To investigate the polymorphisms of interleukin-18 (IL-18) gene promoters, and to disclose whether such polymorphisms are associated with susceptibility to chronic hepatitis B in Chinese Han population. METHODS: ...AIM: To investigate the polymorphisms of interleukin-18 (IL-18) gene promoters, and to disclose whether such polymorphisms are associated with susceptibility to chronic hepatitis B in Chinese Han population. METHODS: Using polymerase chain reaction with sequence specific primers (PCR-SSP) method, the single nucleotide polymorphisms (SNPs) of the promoter region of IL-18 gene at position -607 and -137 were detected in 231 patients with chronic hepatitis B and 300 normal controls. RESULTS: Allele C at position -607 in the promoter of IL-18 gene was detected in 48.7% of normal controls and 51.9% of patients, while allele A at position -607 was detected in 51.3% of normal controls and 48.1% of patients. The frequencies of -607CC, -607 CA and -607AA genotypes in normal controls were 22.0%, 53.3% and 24.7% respectively and in chronic hepatitis B patients were 26.8%, 50.2% and 23.0% respectively. Allele G at position -137 in the promoter of IL-18 gene was detected in 82.3% of normal controls and 88.5% of chronic hepatitis B patients, while allele C at position -137 was detected in 17.7% of normal controls and 11.5% of patients. The frequencies of -137GG, GC and CC genotype were 67.3%, 30.0% and 2.7% in normal controls respectively, while in chronic hepatitis B patients were 78.8%, 19.5% and 1.7% respectively. The frequency of-137GG genotype in chronic hepatitis B groups was significantly higher than that in normal controls (x2=8.55, P=0.003 <0.05), whereas the frequencies of -607C/-137C and -607A/-137C haplotypes in chronic hepatitis B groups were significantly lower than that in normal controls. The association between genotypes of IL-18 promoter region polymorphisms and HBV copies showed that the frequency of -607AA genotype in high HBV-DNA copies groups was lower than that in low HBV-DNA copies groups (x2=6.03, P=0.014 <0.05). CONCLUSION: The polymorphisms of the promoter region of IL-18 gene at position -607 and -137 are closely associated with susceptibility to chronic hepatitis B. The people with allele C at position -137 in the promoter of IL-18 gene may be protected against HBV infection; moreover AA genotype at position -607 may be closely linked to inhibit HBV-DNA replication. These findings give some new clues to the study of pathogenesis of chronic hepatitis B.展开更多
Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in th...Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in the northern Han Chinese population. Methods We recnaited 731 hypertensive patients and 673 control subjects (the calculated power value was 〉 0.8). Genotyping was performed to identify C825T, C1429T and G(-350)A polymorphisms using the TaqMan assay. Comparisons of allelic and genotypic frequencies between cases and controls were made by using the chi-square test. Logistic regression analyses were performed to investigate the relationships between the three polymorphisms of GNB3 gene under different genetic models (additive, dominant and recessive models). Results The genotype dis- tribution and allele frequencies of C825T, C1429T and G(-350)A polymorphisms did not differ significantly between hypertensive patients and control subjects, either when the full sample was assessed, or when the sample was stratified by gender. No significant association was observed between C825T, C 1429T and G(-350)A polymorphisms and the risk of essential hypertension in any genetic model. Linkage dis- equilibrium was only detected between C825T and C 1429T polymorphisms. Haplotype analyses observed that none of the three estimated haplotypes significantly increased the risk of hypertension. Conclusions Our study suggested that the GNB3 gene polymorphisms [C825T, C 1429T and G(-350)A] were not significantly associated with essential hypertension in northern Han Chinese population.展开更多
AIM:To investigate the association between three tag single nucleotide polymorphisms (tagSNPs) in inter-feron regulatory factors (IRF3) and the genetic suscep-tibility to chronic hepatitis B virus (HBV) infection.METH...AIM:To investigate the association between three tag single nucleotide polymorphisms (tagSNPs) in inter-feron regulatory factors (IRF3) and the genetic suscep-tibility to chronic hepatitis B virus (HBV) infection.METHODS:We performed a case-control study of 985 Chinese cases of chronic HBV infection and 294 self-limiting HBV-infected individuals as controls.Three tagSNPs in IRF3 (rs10415576,rs2304204,rs2304206) were genotyped with the Multiplex SNaPshot technique.The genotype and allele frequencies were calculatedand analyzed.RESULTS:The three SNPs showed no significant geno-type/allele associations with chronic HBV infection.Overall allele P values were:rs10415576,P=0.0908,odds ratio (OR) [95% confidence interval (CI)]=1.1798 (0.9740-1.4291);rs2304204,P=0.5959,OR (95% CI)=1.0597 (0.8552-1.3133);rs2304206,P=0.8372,OR (95% CI)=1.0250 (0.8097-1.2976).Overall genotype P values were:rs10415576,P=0.2106;rs2304204,P=0.8458;rs2304206,P=0.8315.There were no statisti-cally significant differences between patients with chron-ic HBV infection and controls.Haplotypes generated by these three SNPs were also not significantly different between the two groups.CONCLUSION:The three tagSNPs of IRF3 are not asso-ciated with HBV infection in the Han Chinese population.展开更多
Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic j...Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum y-glutamyltransferase. Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi, while multidrug resistance protein 3 was expressed adequately. Novel mutations in ABCB11, a four-nucleotide deletion in exon 3, c.90_93delGAAA, and a single-nucleotide insertion in exon 5, c.249_250insT, were identified, with confirmation in her parents. These mutations were predicted to lead to synthesis of truncated forms of BSEP. Immunostaining and mutation analysis thus established the diagnosis of PFIC type展开更多
AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF...AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) with the colorectal carcinoma (CRC) risk in Han Chinese. METHODS: Polymorphisms of LBP (rs1739654, rs223 2596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study. Single-nucleotide polymorphisms (SNPs) between cases and controls were analyzed by unconditional logistic regression. RESULTS: GA and GG genotypes of LBP rs2232596 were associated with a significantly increased risk ofCRC [odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.15-1.99, P = 0.003; OR = 2.49, 95% CI 1.16-5.38, P = 0.016, respectively]. A similar association was also observed for the CG genotype of CD14 rs4914 (OR= 1.69, 95% CI 1.20-2.36, P = 0.002). In addition, a combination of polymorphisms in LBP rs2232596 and CD14 rs4914 led to a 3.4-fold increased risk of CRC (OR = 3.44, 95% CI 1.94-6.10, P = 0.000). CONCLUSION: This study highlights the LBP rs2232596 and CD14 rs4914 polymorphisms as biomarkers for elevated CRC susceptibility in the Chinese Han population.展开更多
The national image is multi-dimensional, outbound tourism is one of the most intuitive ways. The outbound tourism behavior of Individual citizen is not only considered as the outward manifestation of individual civil ...The national image is multi-dimensional, outbound tourism is one of the most intuitive ways. The outbound tourism behavior of Individual citizen is not only considered as the outward manifestation of individual civil quality, but also considered as the emblem the quality of all citizens of whole country, affects the national image, related to the country's national influence and credibility. The outbound tourism of Chinese citizens brought about the rapid growth of the enormous economic benefits and influence, which makes the outbound tourism behavior of Chinese citizens gotten more concern. The uncivilized outbound tourism behavior of Chinese citizens are frequent, which brings extremely strong damage, and which serious impact on the healthy image about the Ancient civilization and the country of ceremonies of China, and which greatly restricts the spread of a good national image of China. Based on the analysis about the characteristics of rapid growth outbound tourism of Chinese citizens, this paper discusses the approaches of current Chinese national image shaping, put forward that China must strengthen citizen education, and improve relevant laws and regulations, and strengthen supervision, only then might Chinese citizens outbound tourism uncivilized behavior be prevented from the root.展开更多
This paper compares 18th and 19th century travelogues written by women and men travelling the cultural contact zones of the empire, as well as fictional recreations of such first encounters. A juxtaposition of the wri...This paper compares 18th and 19th century travelogues written by women and men travelling the cultural contact zones of the empire, as well as fictional recreations of such first encounters. A juxtaposition of the writers' reaction to the dynamics of gazing and the ethics of touch yields surprising results. Many women travellers have no problem to acknowledge the reciprocity of the gaze, accepting, as a matter of course, that the objects of their ethnological interest will gaze at them in return. In comparison, male travellers often exhibit unease at becoming an object of appraisal and observation. Even more interestingly, male travellers often shy away from haptic contact with members of the indigenous population, whereas many (though not all) women are more tolerant of touch and proximity. Regarded as "unwomanly" by their contemporaries, they carved out for themselves roles which allowed for a more intimate interaction with foreign ethnicities; also, they wrote in different genres--private memoirs instead of official reports. But even in their (semi) fictional writings male authors seem to imagine inter-cultural encounters in different terms from women and tend not let their protagonists enter into close bodily contact with the indigenous population.展开更多
In order to consider the Wisdom of the Many, one has to reconsider Aristotle's statement about the source of a nation-state concerning political "gregarism"--how it is called today, and why this belongs to the esse...In order to consider the Wisdom of the Many, one has to reconsider Aristotle's statement about the source of a nation-state concerning political "gregarism"--how it is called today, and why this belongs to the essentials of political constitution. Beforehand, this concept should not provide an instance of theoretical indulgence for emotional concepts or alike. Then, this statement will have to be confronted with the core argument of the Wisdom of the Many, together with the interpretation of Waldron. It will be interpreted as the counterpart of gregarism: When several people find together a solution, which eventually overrules that of the (few) expert(s), they rely upon a common focus or an instance of polar consciousness. This includes the final question if the shared consciousness-or the polarity condition-is not able to also dominate and manifest within a group of experts, of those sufficiently erudite. As a token of possible evidence, the answer is given with Fichte, his lecture of the Science of Knowledge of 1804 by reason of the succinct reliance upon the plural "We."展开更多
Objectives To study the association of single nucleotide polymorphism (SNP) rs2076185 in chromosome 6p24.1 with the premature coronary artery diseases (PCAD) in Chinese Hun population. Methods A total of 1382 pati...Objectives To study the association of single nucleotide polymorphism (SNP) rs2076185 in chromosome 6p24.1 with the premature coronary artery diseases (PCAD) in Chinese Hun population. Methods A total of 1382 patients were divided into the PCAD group and the control group based on their coronary arteriography (CAG) results. Their SNP rs2076185 were analyzed by the mass-spectrometry. Their allele and genotype frequency in Hardy-Weinberg equilibrium were calculated for assessment. Logistic regression was employed to remove confounding factors and correlate SNP rs2076185 with PCAD. Results The allele and genotype frequencies of the control group were in Hardy-Weinberg equilibrium (P 〉 0.05). The frequencies of allele G of rs2076185 were 54.2% in the PCAD group and 49.5% in the control group. The difference was significant (P = 0.042). The genotype distribution ofrs2076185 of the two groups was also significantly different. The univariate analysis showed that the rs2076185 polymorphisms were associated with the PCAD only in the additive model (OR: 0.828, 95% CI: 0.711-0.964, P = 0.014), and in the dominant model (OR: 0.753, 95% CI: 0.591-0.958, P = 0.021). After removing the confound- ing variables, the rs2076185 polymorphisms was associated with PCAD in the additive model (OR: 0.775, 95% CI: 0.648-0.928, P = 0.005), in the dominant model (OR: 0.698, 95% CI: 0.527-0.925, P = 0.012), and in the recessive model (OR: 0.804, 95% CI: 0.538-0.983, P - 0.038). Conclusion Allele G of rs2076185 reduces the PCAD risks in Chinese Hun population, therefore it could be a coronary artery diseases protective factor in Chinese Hun population.展开更多
Oppressed by sexism from Chinese culture and racism in American society, Kingston modified the Chinese folktale image HUA Mu-lan by endowing her with strength and power. From the new image of the Swordswoman, we can s...Oppressed by sexism from Chinese culture and racism in American society, Kingston modified the Chinese folktale image HUA Mu-lan by endowing her with strength and power. From the new image of the Swordswoman, we can see the feminist ideas in the author's mind and her hatred of unfair treatment in America. This paper mainly talks about how and why Kingston modifies the image and culture integrity rather than conflict in her mind.展开更多
MNS16A, a variable number of tandem repeats polymorphism in the TERT gene, has been suggested to regulate telomerase activity. As telomerase activity has been reported to be related to life-span, we hypothesized that ...MNS16A, a variable number of tandem repeats polymorphism in the TERT gene, has been suggested to regulate telomerase activity. As telomerase activity has been reported to be related to life-span, we hypothesized that this polymorphism might affect human longevity by controlling the length of the telomere. To test this hypothesis, we collected 446 unrelated pericentenarian individuals (age)90, mean 94.45±3.45 years) and 332 normal controls (age 22-53, mean 35.0±12.0 years) from Dujiangyan, Sichuan, China. We typed the MNS16A polymorphism in both groups, and compared the allele and genotype frequencies between the peri-centenarian and control groups using the chi-squared test. There was no significant difference between the peri-centenarian and control groups. Thus, the MNS16A polymorphism in TERT might not influence human life-span, at least in the Hart Chinese population studied here.展开更多
Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3...Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.Methods:We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls.Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM.Additionally,we conducted a stratified genotype–phenotype correlation analysis.Results:The A allele of rs4468255 was significantly associated with IDCM(P<0.01).The rs4468255,rs11812601,rs56165849,and rs3740346 were also associated with diastolic blood pressure(DBP)and left ventricular ejection fraction(LVEF)(P<0.05).Notably,a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator(ICD)recipients under a recessive model(P<0.01),whereas the significant association disappeared after adjusting for potential confounders.However,in the dominant model,notable correlations could only be observed after adjusting for multi parameters.Conclusions:The rs4468255 was significantly correlated with IDCM of Chinese Han population.A allele of rs4468255 is higher in IDCM patients with ICD implantation,suggesting the influence of genetic background in the generation of this response.In addition,rs11812601,rs56165849,and rs3740346 in LDB3 show association with brain natriuretic peptide,DBP,and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.展开更多
Objective: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are locat...Objective: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population. Methods: We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results. Results: There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: X^2=4.5200, P=0.0335; rs1964081 :)(2=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262 X^2=5.3430, P=0.0208). Conclusions: Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.展开更多
基金The Special Funds of China Education Ministry for Returnees, No. 2003-14
文摘AIM: To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer (HNPCC) in suspected Chinese patients. METHODS: Five independent Chinese kindreds with HNPCC fulfilling the classical Amsterdam criteria were collected. Genomic DNA was extracted after informed consent was obtained. The coding region of hMSH2 and hMLH1 genes was detected by polymerase chain reaction (PCR) and denaturing high-performance liquid chromatography (DHPLC). Mutations identified in the proband by DHPLC were directly sequenced using a 377 DNA sequencer, analyzed with a basic local alignment tool (BLAST), and tested in the corresponding family members by direct DNA sequencing. RESULTS: Mutations were identified in two Chinese HNPCC kindreds. One was the missense mutation of hMSH2 c.1808A→G resulting in Asp 603 Gly identified in the proband of the fifth HNPCC (HNPCCS) kindred. In the HNP5 kindred, three family members were found to have this mutation and two of them had colorectal cancer. The other mutation of hMLH1 c.1882A→G was identified in the HNP2 kindred's proband, which might be the nonsense mutation analyzed by BLAST. CONCLUSION: Pedigree investigation and mutation testing of hMSH2 and hMLH1 are the practical methods to identify high-risk HNPCC patients in China.
文摘AIM: To investigate the polymorphisms of interleukin-18 (IL-18) gene promoters, and to disclose whether such polymorphisms are associated with susceptibility to chronic hepatitis B in Chinese Han population. METHODS: Using polymerase chain reaction with sequence specific primers (PCR-SSP) method, the single nucleotide polymorphisms (SNPs) of the promoter region of IL-18 gene at position -607 and -137 were detected in 231 patients with chronic hepatitis B and 300 normal controls. RESULTS: Allele C at position -607 in the promoter of IL-18 gene was detected in 48.7% of normal controls and 51.9% of patients, while allele A at position -607 was detected in 51.3% of normal controls and 48.1% of patients. The frequencies of -607CC, -607 CA and -607AA genotypes in normal controls were 22.0%, 53.3% and 24.7% respectively and in chronic hepatitis B patients were 26.8%, 50.2% and 23.0% respectively. Allele G at position -137 in the promoter of IL-18 gene was detected in 82.3% of normal controls and 88.5% of chronic hepatitis B patients, while allele C at position -137 was detected in 17.7% of normal controls and 11.5% of patients. The frequencies of -137GG, GC and CC genotype were 67.3%, 30.0% and 2.7% in normal controls respectively, while in chronic hepatitis B patients were 78.8%, 19.5% and 1.7% respectively. The frequency of-137GG genotype in chronic hepatitis B groups was significantly higher than that in normal controls (x2=8.55, P=0.003 <0.05), whereas the frequencies of -607C/-137C and -607A/-137C haplotypes in chronic hepatitis B groups were significantly lower than that in normal controls. The association between genotypes of IL-18 promoter region polymorphisms and HBV copies showed that the frequency of -607AA genotype in high HBV-DNA copies groups was lower than that in low HBV-DNA copies groups (x2=6.03, P=0.014 <0.05). CONCLUSION: The polymorphisms of the promoter region of IL-18 gene at position -607 and -137 are closely associated with susceptibility to chronic hepatitis B. The people with allele C at position -137 in the promoter of IL-18 gene may be protected against HBV infection; moreover AA genotype at position -607 may be closely linked to inhibit HBV-DNA replication. These findings give some new clues to the study of pathogenesis of chronic hepatitis B.
基金grants of the National High Technology Research and Development Program,grants of the National Eleventh Five-year Plan Program from the Ministry of Science and Technology of China,Beijing Natural Science Foundation
文摘Objective To explore the association between the three polymorphisms [ C825T, C1429T and G(-350)A] of the gene encoding the G protein beta 3 subunit (GNB3) and hypertension by performing a case-control study in the northern Han Chinese population. Methods We recnaited 731 hypertensive patients and 673 control subjects (the calculated power value was 〉 0.8). Genotyping was performed to identify C825T, C1429T and G(-350)A polymorphisms using the TaqMan assay. Comparisons of allelic and genotypic frequencies between cases and controls were made by using the chi-square test. Logistic regression analyses were performed to investigate the relationships between the three polymorphisms of GNB3 gene under different genetic models (additive, dominant and recessive models). Results The genotype dis- tribution and allele frequencies of C825T, C1429T and G(-350)A polymorphisms did not differ significantly between hypertensive patients and control subjects, either when the full sample was assessed, or when the sample was stratified by gender. No significant association was observed between C825T, C 1429T and G(-350)A polymorphisms and the risk of essential hypertension in any genetic model. Linkage dis- equilibrium was only detected between C825T and C 1429T polymorphisms. Haplotype analyses observed that none of the three estimated haplotypes significantly increased the risk of hypertension. Conclusions Our study suggested that the GNB3 gene polymorphisms [C825T, C 1429T and G(-350)A] were not significantly associated with essential hypertension in northern Han Chinese population.
基金Supported by Grants from the National Natural Science Foundation of China,No.81072342the National Pre-973 Program Projects,No. 2009CB526411
文摘AIM:To investigate the association between three tag single nucleotide polymorphisms (tagSNPs) in inter-feron regulatory factors (IRF3) and the genetic suscep-tibility to chronic hepatitis B virus (HBV) infection.METHODS:We performed a case-control study of 985 Chinese cases of chronic HBV infection and 294 self-limiting HBV-infected individuals as controls.Three tagSNPs in IRF3 (rs10415576,rs2304204,rs2304206) were genotyped with the Multiplex SNaPshot technique.The genotype and allele frequencies were calculatedand analyzed.RESULTS:The three SNPs showed no significant geno-type/allele associations with chronic HBV infection.Overall allele P values were:rs10415576,P=0.0908,odds ratio (OR) [95% confidence interval (CI)]=1.1798 (0.9740-1.4291);rs2304204,P=0.5959,OR (95% CI)=1.0597 (0.8552-1.3133);rs2304206,P=0.8372,OR (95% CI)=1.0250 (0.8097-1.2976).Overall genotype P values were:rs10415576,P=0.2106;rs2304204,P=0.8458;rs2304206,P=0.8315.There were no statisti-cally significant differences between patients with chron-ic HBV infection and controls.Haplotypes generated by these three SNPs were also not significantly different between the two groups.CONCLUSION:The three tagSNPs of IRF3 are not asso-ciated with HBV infection in the Han Chinese population.
文摘Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum y-glutamyltransferase. Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi, while multidrug resistance protein 3 was expressed adequately. Novel mutations in ABCB11, a four-nucleotide deletion in exon 3, c.90_93delGAAA, and a single-nucleotide insertion in exon 5, c.249_250insT, were identified, with confirmation in her parents. These mutations were predicted to lead to synthesis of truncated forms of BSEP. Immunostaining and mutation analysis thus established the diagnosis of PFIC type
基金Supported by The Nationgal Natural Science Foundation of China,No.30571924
文摘AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) with the colorectal carcinoma (CRC) risk in Han Chinese. METHODS: Polymorphisms of LBP (rs1739654, rs223 2596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study. Single-nucleotide polymorphisms (SNPs) between cases and controls were analyzed by unconditional logistic regression. RESULTS: GA and GG genotypes of LBP rs2232596 were associated with a significantly increased risk ofCRC [odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.15-1.99, P = 0.003; OR = 2.49, 95% CI 1.16-5.38, P = 0.016, respectively]. A similar association was also observed for the CG genotype of CD14 rs4914 (OR= 1.69, 95% CI 1.20-2.36, P = 0.002). In addition, a combination of polymorphisms in LBP rs2232596 and CD14 rs4914 led to a 3.4-fold increased risk of CRC (OR = 3.44, 95% CI 1.94-6.10, P = 0.000). CONCLUSION: This study highlights the LBP rs2232596 and CD14 rs4914 polymorphisms as biomarkers for elevated CRC susceptibility in the Chinese Han population.
文摘The national image is multi-dimensional, outbound tourism is one of the most intuitive ways. The outbound tourism behavior of Individual citizen is not only considered as the outward manifestation of individual civil quality, but also considered as the emblem the quality of all citizens of whole country, affects the national image, related to the country's national influence and credibility. The outbound tourism of Chinese citizens brought about the rapid growth of the enormous economic benefits and influence, which makes the outbound tourism behavior of Chinese citizens gotten more concern. The uncivilized outbound tourism behavior of Chinese citizens are frequent, which brings extremely strong damage, and which serious impact on the healthy image about the Ancient civilization and the country of ceremonies of China, and which greatly restricts the spread of a good national image of China. Based on the analysis about the characteristics of rapid growth outbound tourism of Chinese citizens, this paper discusses the approaches of current Chinese national image shaping, put forward that China must strengthen citizen education, and improve relevant laws and regulations, and strengthen supervision, only then might Chinese citizens outbound tourism uncivilized behavior be prevented from the root.
文摘This paper compares 18th and 19th century travelogues written by women and men travelling the cultural contact zones of the empire, as well as fictional recreations of such first encounters. A juxtaposition of the writers' reaction to the dynamics of gazing and the ethics of touch yields surprising results. Many women travellers have no problem to acknowledge the reciprocity of the gaze, accepting, as a matter of course, that the objects of their ethnological interest will gaze at them in return. In comparison, male travellers often exhibit unease at becoming an object of appraisal and observation. Even more interestingly, male travellers often shy away from haptic contact with members of the indigenous population, whereas many (though not all) women are more tolerant of touch and proximity. Regarded as "unwomanly" by their contemporaries, they carved out for themselves roles which allowed for a more intimate interaction with foreign ethnicities; also, they wrote in different genres--private memoirs instead of official reports. But even in their (semi) fictional writings male authors seem to imagine inter-cultural encounters in different terms from women and tend not let their protagonists enter into close bodily contact with the indigenous population.
文摘In order to consider the Wisdom of the Many, one has to reconsider Aristotle's statement about the source of a nation-state concerning political "gregarism"--how it is called today, and why this belongs to the essentials of political constitution. Beforehand, this concept should not provide an instance of theoretical indulgence for emotional concepts or alike. Then, this statement will have to be confronted with the core argument of the Wisdom of the Many, together with the interpretation of Waldron. It will be interpreted as the counterpart of gregarism: When several people find together a solution, which eventually overrules that of the (few) expert(s), they rely upon a common focus or an instance of polar consciousness. This includes the final question if the shared consciousness-or the polarity condition-is not able to also dominate and manifest within a group of experts, of those sufficiently erudite. As a token of possible evidence, the answer is given with Fichte, his lecture of the Science of Knowledge of 1804 by reason of the succinct reliance upon the plural "We."
文摘Objectives To study the association of single nucleotide polymorphism (SNP) rs2076185 in chromosome 6p24.1 with the premature coronary artery diseases (PCAD) in Chinese Hun population. Methods A total of 1382 patients were divided into the PCAD group and the control group based on their coronary arteriography (CAG) results. Their SNP rs2076185 were analyzed by the mass-spectrometry. Their allele and genotype frequency in Hardy-Weinberg equilibrium were calculated for assessment. Logistic regression was employed to remove confounding factors and correlate SNP rs2076185 with PCAD. Results The allele and genotype frequencies of the control group were in Hardy-Weinberg equilibrium (P 〉 0.05). The frequencies of allele G of rs2076185 were 54.2% in the PCAD group and 49.5% in the control group. The difference was significant (P = 0.042). The genotype distribution ofrs2076185 of the two groups was also significantly different. The univariate analysis showed that the rs2076185 polymorphisms were associated with the PCAD only in the additive model (OR: 0.828, 95% CI: 0.711-0.964, P = 0.014), and in the dominant model (OR: 0.753, 95% CI: 0.591-0.958, P = 0.021). After removing the confound- ing variables, the rs2076185 polymorphisms was associated with PCAD in the additive model (OR: 0.775, 95% CI: 0.648-0.928, P = 0.005), in the dominant model (OR: 0.698, 95% CI: 0.527-0.925, P = 0.012), and in the recessive model (OR: 0.804, 95% CI: 0.538-0.983, P - 0.038). Conclusion Allele G of rs2076185 reduces the PCAD risks in Chinese Hun population, therefore it could be a coronary artery diseases protective factor in Chinese Hun population.
文摘Oppressed by sexism from Chinese culture and racism in American society, Kingston modified the Chinese folktale image HUA Mu-lan by endowing her with strength and power. From the new image of the Swordswoman, we can see the feminist ideas in the author's mind and her hatred of unfair treatment in America. This paper mainly talks about how and why Kingston modifies the image and culture integrity rather than conflict in her mind.
基金supported by the National Basic Research Program of China(2013CB530802)Yunnan Province(2011FA024)+1 种基金the National Natural Science Foundation of China(31100909)the Chinese Academy of Sciences
文摘MNS16A, a variable number of tandem repeats polymorphism in the TERT gene, has been suggested to regulate telomerase activity. As telomerase activity has been reported to be related to life-span, we hypothesized that this polymorphism might affect human longevity by controlling the length of the telomere. To test this hypothesis, we collected 446 unrelated pericentenarian individuals (age)90, mean 94.45±3.45 years) and 332 normal controls (age 22-53, mean 35.0±12.0 years) from Dujiangyan, Sichuan, China. We typed the MNS16A polymorphism in both groups, and compared the allele and genotype frequencies between the peri-centenarian and control groups using the chi-squared test. There was no significant difference between the peri-centenarian and control groups. Thus, the MNS16A polymorphism in TERT might not influence human life-span, at least in the Hart Chinese population studied here.
基金the Key Projects of Zhejiang Medical and Health Science and Technology Plan(Provincial and Ministerial Co-construction)(No.WKJ-ZJ-1819)the Fundamental Research Funds for the Zhejiang Province Universities(No.2019XZZX003-15)the National Natural Science Foundation of China(No.81470370)
文摘Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.Methods:We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls.Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM.Additionally,we conducted a stratified genotype–phenotype correlation analysis.Results:The A allele of rs4468255 was significantly associated with IDCM(P<0.01).The rs4468255,rs11812601,rs56165849,and rs3740346 were also associated with diastolic blood pressure(DBP)and left ventricular ejection fraction(LVEF)(P<0.05).Notably,a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator(ICD)recipients under a recessive model(P<0.01),whereas the significant association disappeared after adjusting for potential confounders.However,in the dominant model,notable correlations could only be observed after adjusting for multi parameters.Conclusions:The rs4468255 was significantly correlated with IDCM of Chinese Han population.A allele of rs4468255 is higher in IDCM patients with ICD implantation,suggesting the influence of genetic background in the generation of this response.In addition,rs11812601,rs56165849,and rs3740346 in LDB3 show association with brain natriuretic peptide,DBP,and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.
基金Projcct supported by the National Natural Science Foundation of China (No. 81072315)
文摘Objective: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population. Methods: We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results. Results: There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: X^2=4.5200, P=0.0335; rs1964081 :)(2=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262 X^2=5.3430, P=0.0208). Conclusions: Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.