The HLA genes, located on the short arm of human chromosome 6, encode peptides involved in host immune response, are important in tissue transplantation and are associated with a variety of infectious, autoimmune, and...The HLA genes, located on the short arm of human chromosome 6, encode peptides involved in host immune response, are important in tissue transplantation and are associated with a variety of infectious, autoimmune, and inflammatory diseases. Moreover, the HLA loci display an unprecedented degree of diversity and the distribution of HLA alleles and haplotypes among different populations is considerably variable. The expression of particular HLA alleles may be associated with the susceptibility or resistance to some diseases. In this study, the genetic polymorphism of HLA-DQA1 and -DQB1 in Jiangsu Han population was analyzed by polymerase chain reaction-sequence-based typing （PCR-SBT）.展开更多
AIM： The GFAP was traditionally considered to be a biomarker for neural gila （mainly astrocytes and nonmyelinating Schwann cells）. Genetically, a 2.2-kb human GFAP promoter has been successfully used to target astr...AIM： The GFAP was traditionally considered to be a biomarker for neural gila （mainly astrocytes and nonmyelinating Schwann cells）. Genetically, a 2.2-kb human GFAP promoter has been successfully used to target astrocytes in vitro and in vivo. More recently, GFAP was also established as one of the several makers for identifying hepatic stellate cells （HSC）. In this project, possible application of the same 2.2-kb human GFAP promoter for targeting HSC was investigated. METHODS： The GFAP-lacZ transgene was transfected into various cell lines （HSC, hepatocyte, and other nonHSC cell types）. The transgene expression specificity was determined by X-gal staining of the β-galactosidase activity. And the responsiveness of the transgene was tested with a typical pro-fibrotic cytokine TGF-β1. The expression of endogenous GFAP gene was assessed by real-time RT-PCR, providing a reference for the transgene expression. RESULTS： The results demonstrated for the first time that the 2.2 kb hGFAP promoter was not only capable of directing HSC-specific expression, but also responding to a known pro-fibrogenic cytokine TGF-β1 by upregulation in a doseand time-dependent manner, similar to the endogenous GFAP. CONCLUSION： In conclusion, these findings suggested novel utilities for using the GFAP promoter to specifically manipulate HSC for therapeutic purpose.展开更多
The majority of single nucleotide polymorphisms(SNPs)found in the coding region(cSNPs)are single base substitutions that may or may not lead to amino acid substitutions,most of which are related to diseases.Some cSNPs...The majority of single nucleotide polymorphisms(SNPs)found in the coding region(cSNPs)are single base substitutions that may or may not lead to amino acid substitutions,most of which are related to diseases.Some cSNPs may prove useful for their potential links to functional cSNPs via linkage disequilibrium mapping.We have selected 48 cSNPs located in the coding regions of 25 genes to construct the cSNP chip.These genes are harbored in the high frequency loss regions of the chromosome 1p and 8p and related with apoptosis,cell cycles,signal transduction,oncogene,tumor suppressor genes and so on.All of the cSNPs can lead to amino acid substitutions except TP73(rs1801174).The PCR products amplified from 31 hepatocellular carcinoma(HCC)specimens were labeled with Dig-dUTP and then hybridized with the cSNP chips.The results showed that there was no hybridization signal when there was more than one site of mutation in the amplification sequence,indicating that the cSNP chip had a high sensitivity.The statistic data of the SNP(MT,homozygous and HT,heterozygous)in the HCC patients with different phenotypes(HBV+/-,differentiation stage,family history positive or negative,tumor size)indicated that the number of MT was distinctly different between patients with positive HBV and negative HBV.The MT and HT numbers of all the 48 cSNPs were significantly different between low differentiation and high differentiation HCC patients.The numbers of MT and HT were not different between positived and negative family history groups and between tumor size>3 cm and≤3 cm groups.The study results provided useful information for understanding the molecular mechanisms of HCC development.展开更多
本研究旨在探索血管活性肠肽I型受体(Vasoacitve intestinal peptide type I receptor,VIPR-1)基因5′调控区(-496～-1bp)多态性及其单倍型效应对鸡就巢性的影响,寻找影响肉鸡就巢性的分子标记,为降低或者剔除肉鸡就巢行为的育种研究提...本研究旨在探索血管活性肠肽I型受体(Vasoacitve intestinal peptide type I receptor,VIPR-1)基因5′调控区(-496～-1bp)多态性及其单倍型效应对鸡就巢性的影响,寻找影响肉鸡就巢性的分子标记,为降低或者剔除肉鸡就巢行为的育种研究提供相应依据。采用测序技术对498只清远麻鸡VIPR-1基因5′调控区进行多态性检测及基因型分析,利用最小二乘均数对VIPR-1基因5′调控区的多态位点与就巢性状进行相关分析,利用PHASE软件对多态位点进行单倍型分析。结果,VIPR-1基因5′调控区存在12个多态性位点,G-359T、G-266T、A-134G、A-94G、C-72G对18～43周龄的就巢持续天数影响达到显著水平(P<0.05),A-94G位点对18～54周龄的就巢率的影响达到显著水平(P<0.05);构建的单倍型对18～54周龄的就巢持续天数的影响达到极显著水平(P<0.01)。最小二乘分析结果表明,CCTGGGAAGCAG/TTGGGGAAGCAC型个体的就巢持续天数比其它单倍型个体极显著的延长(P<0.01)。结果表明,VIPR-1基因5′调控区(-496～-1bp)可能存在影响鸡就巢行为的分子标记,CCTGGGAAGCAG/TTGGGGAAGCAC型个体对鸡就巢性具有较大的遗传效应,可作为分子标记应用于家鸡就巢行为的筛选。展开更多
基金This study was supported by a grant from the National Natural Science Foundation of China (No. 30200232).
文摘The HLA genes, located on the short arm of human chromosome 6, encode peptides involved in host immune response, are important in tissue transplantation and are associated with a variety of infectious, autoimmune, and inflammatory diseases. Moreover, the HLA loci display an unprecedented degree of diversity and the distribution of HLA alleles and haplotypes among different populations is considerably variable. The expression of particular HLA alleles may be associated with the susceptibility or resistance to some diseases. In this study, the genetic polymorphism of HLA-DQA1 and -DQB1 in Jiangsu Han population was analyzed by polymerase chain reaction-sequence-based typing （PCR-SBT）.
基金Supported by the Biomedical Research Councilthe Institute of Bioengineering and Nanotechnology,the Republic of Singapore
文摘AIM： The GFAP was traditionally considered to be a biomarker for neural gila （mainly astrocytes and nonmyelinating Schwann cells）. Genetically, a 2.2-kb human GFAP promoter has been successfully used to target astrocytes in vitro and in vivo. More recently, GFAP was also established as one of the several makers for identifying hepatic stellate cells （HSC）. In this project, possible application of the same 2.2-kb human GFAP promoter for targeting HSC was investigated. METHODS： The GFAP-lacZ transgene was transfected into various cell lines （HSC, hepatocyte, and other nonHSC cell types）. The transgene expression specificity was determined by X-gal staining of the β-galactosidase activity. And the responsiveness of the transgene was tested with a typical pro-fibrotic cytokine TGF-β1. The expression of endogenous GFAP gene was assessed by real-time RT-PCR, providing a reference for the transgene expression. RESULTS： The results demonstrated for the first time that the 2.2 kb hGFAP promoter was not only capable of directing HSC-specific expression, but also responding to a known pro-fibrogenic cytokine TGF-β1 by upregulation in a doseand time-dependent manner, similar to the endogenous GFAP. CONCLUSION： In conclusion, these findings suggested novel utilities for using the GFAP promoter to specifically manipulate HSC for therapeutic purpose.
文摘The majority of single nucleotide polymorphisms(SNPs)found in the coding region(cSNPs)are single base substitutions that may or may not lead to amino acid substitutions,most of which are related to diseases.Some cSNPs may prove useful for their potential links to functional cSNPs via linkage disequilibrium mapping.We have selected 48 cSNPs located in the coding regions of 25 genes to construct the cSNP chip.These genes are harbored in the high frequency loss regions of the chromosome 1p and 8p and related with apoptosis,cell cycles,signal transduction,oncogene,tumor suppressor genes and so on.All of the cSNPs can lead to amino acid substitutions except TP73(rs1801174).The PCR products amplified from 31 hepatocellular carcinoma(HCC)specimens were labeled with Dig-dUTP and then hybridized with the cSNP chips.The results showed that there was no hybridization signal when there was more than one site of mutation in the amplification sequence,indicating that the cSNP chip had a high sensitivity.The statistic data of the SNP(MT,homozygous and HT,heterozygous)in the HCC patients with different phenotypes(HBV+/-,differentiation stage,family history positive or negative,tumor size)indicated that the number of MT was distinctly different between patients with positive HBV and negative HBV.The MT and HT numbers of all the 48 cSNPs were significantly different between low differentiation and high differentiation HCC patients.The numbers of MT and HT were not different between positived and negative family history groups and between tumor size>3 cm and≤3 cm groups.The study results provided useful information for understanding the molecular mechanisms of HCC development.
文摘本研究旨在探索血管活性肠肽I型受体(Vasoacitve intestinal peptide type I receptor,VIPR-1)基因5′调控区(-496～-1bp)多态性及其单倍型效应对鸡就巢性的影响,寻找影响肉鸡就巢性的分子标记,为降低或者剔除肉鸡就巢行为的育种研究提供相应依据。采用测序技术对498只清远麻鸡VIPR-1基因5′调控区进行多态性检测及基因型分析,利用最小二乘均数对VIPR-1基因5′调控区的多态位点与就巢性状进行相关分析,利用PHASE软件对多态位点进行单倍型分析。结果,VIPR-1基因5′调控区存在12个多态性位点,G-359T、G-266T、A-134G、A-94G、C-72G对18～43周龄的就巢持续天数影响达到显著水平(P<0.05),A-94G位点对18～54周龄的就巢率的影响达到显著水平(P<0.05);构建的单倍型对18～54周龄的就巢持续天数的影响达到极显著水平(P<0.01)。最小二乘分析结果表明,CCTGGGAAGCAG/TTGGGGAAGCAC型个体的就巢持续天数比其它单倍型个体极显著的延长(P<0.01)。结果表明,VIPR-1基因5′调控区(-496～-1bp)可能存在影响鸡就巢行为的分子标记,CCTGGGAAGCAG/TTGGGGAAGCAC型个体对鸡就巢性具有较大的遗传效应,可作为分子标记应用于家鸡就巢行为的筛选。
