[Objective] This study discussed the SNPs of SLC27A1 gene and its relationship with milk production traits in Chinese Holstein Cattle in order to find the SNP site which had significant effect on milk production trait...[Objective] This study discussed the SNPs of SLC27A1 gene and its relationship with milk production traits in Chinese Holstein Cattle in order to find the SNP site which had significant effect on milk production traits in Chinese Holstein Cattle.[Method] DNA was extracted from the bleed of 48 Chinese Holstein Cattle selected according to phenotypic character and mixed into DNA pool for SNPs detection by polymerase chain reaction-single strand conformation polymorphism（PCR-SSCP）and cloning sequencing.Then different genotypes were detected in other 231 Chinese Holstein Cattle by PCR-RFLP.The association between genotype and production traits was assessed by GLM procedure,SAS version 8.02.[Result] There were T112C in exon3 and G64A loci in 3＇UTR,among them the T112C in exon3 was synonymous mutation.There were 3 genotypes TT,TC and CC in T112C locus and 3 genotypes GG,GA and AA in G64A locus.The population was at Hardy-Weinberg equilibration.Cows with genotype CC had significantly highest milk yield than those with genotype TC（P0.01）,and there were no significant differences among the 3 genotypes on milk protein percent and milk fat percent（P0.05）,but the tendency of CC TC TT on milk protein percent and the tendency of TT TC CC on milk fat percent were showed.There was no significant difference among the 3 genotypes of G64A loci on milk yield,milk protein percent and milk fat percent（P0.05）,but the tendency of GA GG AA on milk yield and the tendency of AA GG GA both on milk protein percent and milk fat percent were showed.[Conclusion] There was certain relation between the T112C locus and milk yield traits;It may improve milk yield to raise the frequency of genotype CC;SLC27A1 gene could be a useful candidate gene in selection program on milk yield traits in Chinese Holstein Cattle,which provided a theoretical basis for the marker-assisted breeding and further study of SLC27A1 gene.展开更多
Renal transplantation provides the best long-term treatment for chronic renal failure. Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases....Renal transplantation provides the best long-term treatment for chronic renal failure. Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases. Also, the genetics of human phenotype variation could be understood by knowing the functions of these SNPs. It is still a major challenge to identify the functional SNPs in a disease-related gene. This work explored how SNPs mutations in HLA-DRB1 gene could affect renal transplantation rejection. This study was carried out in Ahmed Gasim Hospital, Renal Dialysis Center during the period, from September 2012 to November 2013. Blood samples from five Sudanese patients (different families) with known renal transplantation rejection were collected before hemodialysis, furthermore one blood sample for control. DNA sequences results and detected SNPs were analyzed using bioinformatics tools (BLAST, SIFT, nsSNP Analyzer, PolyPhen, I-mutant, BioEdit, CPH, Chimera, Box shade and Project Hope). In addition, international databases were used for datasets [NCBI, Uniprot]. Results showed that, three SNPs were detected;two of three SNPs were predicted as tolerant or benign (rs1059575, novel) and one was deleterious (rs17885437). This study concluded that the identification of pathological SNPs could be an answer to unknown causes for a lot of organ transplantation rejection cases.展开更多
supported by the Earmarked Fund for the Modern Agroindustry Technology Research System, China （CARS-41）;the National High Technology Research and Development Program of China （2011AA100301）
The objectives of the present study were to determine associations between these polymorphisms of PON1 gene and growth and carcass traits. For this purpose, genotyping was performed on males of 18 Angus, 23 Jinnan cat...The objectives of the present study were to determine associations between these polymorphisms of PON1 gene and growth and carcass traits. For this purpose, genotyping was performed on males of 18 Angus, 23 Jinnan cattle, 20 Limousin, 28 Luxi cattle, 26 Qinchuan cattle, 29 Simmental, 29 Charolais. Traits of interest were analyzed using the RFLP-PCR and GLM procedure of SAS 9.1 and least square means of the genotypes were compared by the Tukey＇ s test in the association studies. Association of PONI/ EcoRV genotypes with body weight, average daily gain, rib eye area and tenderness were significant （P〈0.05）, and AG genotype was significant difference with others in average daily gain and tenderness （P〈0.05）, with AA genotype may have higher rib eye area （p〈0.05）. The association analysis of the PONI/Alu I polymorphism showed significant associations between genotypes and growth： body weight and carcass traits net meat weight and tenderness （P〈0.05）. AA genotype was considered more favorable than others in all growth and production traits. There were significant differences among breeds for all associated interests traits and difference between beef breeds and native breeds are obviously in all aspects. And these results may be useful for the breeding selection.展开更多
Endothelial PAS domain protein 1（EPAS1）, also called hypoxia-inducible factor-2, is a key regulatory factor of hypoxic responses and plays an essential role in high-altitude adaptation in mammalian species. In this ...Endothelial PAS domain protein 1（EPAS1）, also called hypoxia-inducible factor-2, is a key regulatory factor of hypoxic responses and plays an essential role in high-altitude adaptation in mammalian species. In this study, polymorphisms of EPAS1 were detected in 217 individuals from 2 Tibetan pig populations and 3 low-altitude pig breeds by DNA pooling, PCR-SSCP, PCR-RFLP and DNA sequencing methods. A total of 14 synonymous polymorphisms were identified in the coding region. The analysis suggested that SNP1（G963A）, SNP7（C1632T）, SNP10（G1929A） and SNP11（G1947A） showed potential association with high-altitude environment because of their particular variation patterns in Tibetan pigs. Linkage disequilibrium（LD） of these SNPs was analyzed. One common LD block including 5 SNPs clustering in exon 12 was identified in all studied pig populations. Haplotype H1（AGGTC） in LD block was dominant in Tibetan pigs（76.6 and 74.2% in Linzhi（LZ） and Chayu（CY） pigs, respectively） and segregated at higher frequency than that in low-altitude pig breeds（52.3, 58.7 and 56.2% in Wuzhishan（WZS）, Min（M） and Laiwu（LW） pigs, respectively）, indicating that H1 may relate to adaptation to high altitude in Tibetan pigs. These findings raise hope that EPAS1 gene can be a candidate gene that involved in adaptation of high altitude in Tibetan pigs.展开更多
2,4-dienoyl CoA reductase gene （DECR 1） is mapped on pig 4 q1.2, includes ten exons and nine introns of variable size that span 30 kb. DECR 1 gene participates in the β-oxidation pathway, affects the content of int...2,4-dienoyl CoA reductase gene （DECR 1） is mapped on pig 4 q1.2, includes ten exons and nine introns of variable size that span 30 kb. DECR 1 gene participates in the β-oxidation pathway, affects the content of intramuscular fatty acid, especially the percentage of linoleic acid. The expression of DECR 1 gene has important influence on IMF, the pH, and the meat colour of pork further affects the meat quality.展开更多
Genomic instability and mutations caused by increases in oxidative stress during pregnancy can damage the fetoplacental unit and can upshot preterm birth.Oxidative damage to DNA may possibly be involved in etiology of...Genomic instability and mutations caused by increases in oxidative stress during pregnancy can damage the fetoplacental unit and can upshot preterm birth.Oxidative damage to DNA may possibly be involved in etiology of preterm birth(PTB)which can be repaired by DNA repair gene.In the present study,we assessed the association of base excision repair gene family by analyzing the association of single nucleotide polymorphisms and genes expression in 8-oxoguanine glycosylase-1(OGG1)and apurinic-apyrimidinic endonuclease 1(APE1)genes with risk of preterm birth in Saudi women.We analyzed genotypes of four single nucleotide polymorphisms(SNPs)(rs1052133,rs293795,rs2072668 and rs2075747)in OGG1 gene and three SNPs(rs1130409,rs3136814,and rs3136817)in APE1 gene using TaqMan Genotyping assay kits in 50 pairs of preterm cases and individually matched controls.Also,gene expression level was explored by RT-PCR in 10 pairs of preterm placental tissues and individually matched normal placental tissues.Two OGG1 SNP,rs1052133(OR=0.497;c2=1.11;p=0.292)and rs2072668(OR=0.408;c2=1.90;p=0.167)and one APE1 SNP rs3136817(OR=0.458;c2=0.40;p=0.527)showed nonsignificant protective effect against PTB development.The expression of both genes under study was found lower in the PTB patients.Genotype and allele frequencies of both gene SNPs did not show any association with the risk of preterm delivery in Saudi women(P˃0.05).However,synthesis and release of OGG1 and APE1 proteins decreased in preterm placental tissues compared to term delivery reflects the probability of being one of the mechanisms leading to preterm birth.展开更多
HIV-1 infection requires the expression of CD4＋ molecules in colligation with C-C chemokine receptor type 5 （CCR5） and C-X-C chemokine receptor type 4 （CXCR4） as the major coreceptors. The role of SNP in 3＇ untr...HIV-1 infection requires the expression of CD4＋ molecules in colligation with C-C chemokine receptor type 5 （CCR5） and C-X-C chemokine receptor type 4 （CXCR4） as the major coreceptors. The role of SNP in 3＇ untranslated region ofSDF-1 （SDF1-3 ＇A） and low copy number （CN） of the CCL3L1 gene is reported to confer increased resistance to HIV-1 infection. The aim of the present study was to analyze the combinatorial effect of both the variations in protection towards HIV-1 infection in Indian population. The combinatorial effect of genetic variation in terms of SNP in SDF-1 gene and CCL3L1 CN was investigated in 105 healthy individuals and 78 HIV-I patients. Genotyping of SDF-1 was performed by RFLP-PCR and CCL3L1 by real-time PCR using TaqMan chemistry. The genotype frequency distribution of SDF-1 was found to be （SDF-1/SDF-I： 65.4%, SDF-1/SDF1-3＇A： 29.5% and SDFI-3＇A/SDF1-3＇A- 5.1%） in HIV patients as compared to （SDF-1/SDF-I： 64.8%, SDF-1/SDF1-3＇A： 30.5% and SDF1-3 ＇A/SDF1-3 ＇A： 4.7%） in healthy individuals, whereas a range of 1 to 6 copies per diploid genome was observed for CCL3L1 gene.展开更多
基金Supported by National Science and Technology R&D Program(2006BAD04A01)National Natural Science Foundation of China(30571329)~~
文摘[Objective] This study discussed the SNPs of SLC27A1 gene and its relationship with milk production traits in Chinese Holstein Cattle in order to find the SNP site which had significant effect on milk production traits in Chinese Holstein Cattle.[Method] DNA was extracted from the bleed of 48 Chinese Holstein Cattle selected according to phenotypic character and mixed into DNA pool for SNPs detection by polymerase chain reaction-single strand conformation polymorphism（PCR-SSCP）and cloning sequencing.Then different genotypes were detected in other 231 Chinese Holstein Cattle by PCR-RFLP.The association between genotype and production traits was assessed by GLM procedure,SAS version 8.02.[Result] There were T112C in exon3 and G64A loci in 3＇UTR,among them the T112C in exon3 was synonymous mutation.There were 3 genotypes TT,TC and CC in T112C locus and 3 genotypes GG,GA and AA in G64A locus.The population was at Hardy-Weinberg equilibration.Cows with genotype CC had significantly highest milk yield than those with genotype TC（P0.01）,and there were no significant differences among the 3 genotypes on milk protein percent and milk fat percent（P0.05）,but the tendency of CC TC TT on milk protein percent and the tendency of TT TC CC on milk fat percent were showed.There was no significant difference among the 3 genotypes of G64A loci on milk yield,milk protein percent and milk fat percent（P0.05）,but the tendency of GA GG AA on milk yield and the tendency of AA GG GA both on milk protein percent and milk fat percent were showed.[Conclusion] There was certain relation between the T112C locus and milk yield traits;It may improve milk yield to raise the frequency of genotype CC;SLC27A1 gene could be a useful candidate gene in selection program on milk yield traits in Chinese Holstein Cattle,which provided a theoretical basis for the marker-assisted breeding and further study of SLC27A1 gene.
文摘Renal transplantation provides the best long-term treatment for chronic renal failure. Single-nucleotide polymorphisms (SNPs) play a major role in the understanding of the genetic basis of many complex human diseases. Also, the genetics of human phenotype variation could be understood by knowing the functions of these SNPs. It is still a major challenge to identify the functional SNPs in a disease-related gene. This work explored how SNPs mutations in HLA-DRB1 gene could affect renal transplantation rejection. This study was carried out in Ahmed Gasim Hospital, Renal Dialysis Center during the period, from September 2012 to November 2013. Blood samples from five Sudanese patients (different families) with known renal transplantation rejection were collected before hemodialysis, furthermore one blood sample for control. DNA sequences results and detected SNPs were analyzed using bioinformatics tools (BLAST, SIFT, nsSNP Analyzer, PolyPhen, I-mutant, BioEdit, CPH, Chimera, Box shade and Project Hope). In addition, international databases were used for datasets [NCBI, Uniprot]. Results showed that, three SNPs were detected;two of three SNPs were predicted as tolerant or benign (rs1059575, novel) and one was deleterious (rs17885437). This study concluded that the identification of pathological SNPs could be an answer to unknown causes for a lot of organ transplantation rejection cases.
基金supported by the Earmarked Fund for the Modern Agroindustry Technology Research System, China (CARS-41)the National High Technology Research and Development Program of China (2011AA100301)
文摘supported by the Earmarked Fund for the Modern Agroindustry Technology Research System, China （CARS-41）;the National High Technology Research and Development Program of China （2011AA100301）
文摘The objectives of the present study were to determine associations between these polymorphisms of PON1 gene and growth and carcass traits. For this purpose, genotyping was performed on males of 18 Angus, 23 Jinnan cattle, 20 Limousin, 28 Luxi cattle, 26 Qinchuan cattle, 29 Simmental, 29 Charolais. Traits of interest were analyzed using the RFLP-PCR and GLM procedure of SAS 9.1 and least square means of the genotypes were compared by the Tukey＇ s test in the association studies. Association of PONI/ EcoRV genotypes with body weight, average daily gain, rib eye area and tenderness were significant （P〈0.05）, and AG genotype was significant difference with others in average daily gain and tenderness （P〈0.05）, with AA genotype may have higher rib eye area （p〈0.05）. The association analysis of the PONI/Alu I polymorphism showed significant associations between genotypes and growth： body weight and carcass traits net meat weight and tenderness （P〈0.05）. AA genotype was considered more favorable than others in all growth and production traits. There were significant differences among breeds for all associated interests traits and difference between beef breeds and native breeds are obviously in all aspects. And these results may be useful for the breeding selection.
基金supported by the National Natural Science Foundation of China(31272403)the Determination of Molecular Characterization for Genetically Modified Organism,China(2013ZX08012-002)the Livestock and Poultry Sharing Platform in China(2013)
文摘Endothelial PAS domain protein 1（EPAS1）, also called hypoxia-inducible factor-2, is a key regulatory factor of hypoxic responses and plays an essential role in high-altitude adaptation in mammalian species. In this study, polymorphisms of EPAS1 were detected in 217 individuals from 2 Tibetan pig populations and 3 low-altitude pig breeds by DNA pooling, PCR-SSCP, PCR-RFLP and DNA sequencing methods. A total of 14 synonymous polymorphisms were identified in the coding region. The analysis suggested that SNP1（G963A）, SNP7（C1632T）, SNP10（G1929A） and SNP11（G1947A） showed potential association with high-altitude environment because of their particular variation patterns in Tibetan pigs. Linkage disequilibrium（LD） of these SNPs was analyzed. One common LD block including 5 SNPs clustering in exon 12 was identified in all studied pig populations. Haplotype H1（AGGTC） in LD block was dominant in Tibetan pigs（76.6 and 74.2% in Linzhi（LZ） and Chayu（CY） pigs, respectively） and segregated at higher frequency than that in low-altitude pig breeds（52.3, 58.7 and 56.2% in Wuzhishan（WZS）, Min（M） and Laiwu（LW） pigs, respectively）, indicating that H1 may relate to adaptation to high altitude in Tibetan pigs. These findings raise hope that EPAS1 gene can be a candidate gene that involved in adaptation of high altitude in Tibetan pigs.
基金Supported by Heilongjiang Province Tackle Key Problem Item(GB01B104)
文摘2,4-dienoyl CoA reductase gene （DECR 1） is mapped on pig 4 q1.2, includes ten exons and nine introns of variable size that span 30 kb. DECR 1 gene participates in the β-oxidation pathway, affects the content of intramuscular fatty acid, especially the percentage of linoleic acid. The expression of DECR 1 gene has important influence on IMF, the pH, and the meat colour of pork further affects the meat quality.
文摘Genomic instability and mutations caused by increases in oxidative stress during pregnancy can damage the fetoplacental unit and can upshot preterm birth.Oxidative damage to DNA may possibly be involved in etiology of preterm birth(PTB)which can be repaired by DNA repair gene.In the present study,we assessed the association of base excision repair gene family by analyzing the association of single nucleotide polymorphisms and genes expression in 8-oxoguanine glycosylase-1(OGG1)and apurinic-apyrimidinic endonuclease 1(APE1)genes with risk of preterm birth in Saudi women.We analyzed genotypes of four single nucleotide polymorphisms(SNPs)(rs1052133,rs293795,rs2072668 and rs2075747)in OGG1 gene and three SNPs(rs1130409,rs3136814,and rs3136817)in APE1 gene using TaqMan Genotyping assay kits in 50 pairs of preterm cases and individually matched controls.Also,gene expression level was explored by RT-PCR in 10 pairs of preterm placental tissues and individually matched normal placental tissues.Two OGG1 SNP,rs1052133(OR=0.497;c2=1.11;p=0.292)and rs2072668(OR=0.408;c2=1.90;p=0.167)and one APE1 SNP rs3136817(OR=0.458;c2=0.40;p=0.527)showed nonsignificant protective effect against PTB development.The expression of both genes under study was found lower in the PTB patients.Genotype and allele frequencies of both gene SNPs did not show any association with the risk of preterm delivery in Saudi women(P˃0.05).However,synthesis and release of OGG1 and APE1 proteins decreased in preterm placental tissues compared to term delivery reflects the probability of being one of the mechanisms leading to preterm birth.
文摘HIV-1 infection requires the expression of CD4＋ molecules in colligation with C-C chemokine receptor type 5 （CCR5） and C-X-C chemokine receptor type 4 （CXCR4） as the major coreceptors. The role of SNP in 3＇ untranslated region ofSDF-1 （SDF1-3 ＇A） and low copy number （CN） of the CCL3L1 gene is reported to confer increased resistance to HIV-1 infection. The aim of the present study was to analyze the combinatorial effect of both the variations in protection towards HIV-1 infection in Indian population. The combinatorial effect of genetic variation in terms of SNP in SDF-1 gene and CCL3L1 CN was investigated in 105 healthy individuals and 78 HIV-I patients. Genotyping of SDF-1 was performed by RFLP-PCR and CCL3L1 by real-time PCR using TaqMan chemistry. The genotype frequency distribution of SDF-1 was found to be （SDF-1/SDF-I： 65.4%, SDF-1/SDF1-3＇A： 29.5% and SDFI-3＇A/SDF1-3＇A- 5.1%） in HIV patients as compared to （SDF-1/SDF-I： 64.8%, SDF-1/SDF1-3＇A： 30.5% and SDF1-3 ＇A/SDF1-3 ＇A： 4.7%） in healthy individuals, whereas a range of 1 to 6 copies per diploid genome was observed for CCL3L1 gene.
