<strong>Introduction:</strong> The goal of this study was to utilize physical characteristics instead of placing subjects in arbitrary diagnostic categories to test for associations with genetic variants. ...<strong>Introduction:</strong> The goal of this study was to utilize physical characteristics instead of placing subjects in arbitrary diagnostic categories to test for associations with genetic variants. <strong>Methods:</strong> Forty-four single nucleotide polymorphisms were tested for association with specific cephalometric measurements in thirty-nine University of Pittsburgh Dental Registry and DNA Repository orthodontic subjects. Cephalometric measurements included an evaluation of FMA, a Wits appraisal, and a Steiner’s ANB analysis. Genetic markers were genotyped using polymerase chain reaction and Taqman chemistry. Chi-square and Fischer’s exact tests (α = 0.05) were used in investigation of overrepresentation of marker alleles. Samples were divided into groups based upon having an FMA, Wits, or ANB measurement above or below the mean of the cohort studied. Secondary analysis was done for sex and ethnicity to determine their effect on FMA, Wits, or ANB. <strong>Results: </strong>An association between FMA measurements was discovered in the following genes: ACTN3, CASP4, ESR1, FGF13, KRT7, and PITX2. An association between Wits measurements was discovered in the following genes: ACTN2, BTBD11, CASP4, FGF3, and FGF10. No associations were found with ANB.<strong> Conclusions: </strong>Genetic markers in several genes at different loci may contribute to craniofacial deformities in humans. This approach of using physical measurements may be an advantage to placing patients in arbitrary diagnostic categories.展开更多
Insufficient available phosphorus in soil has become an important limiting factor for the improvement of yield and quality in soybean. The mining of QTLs and candidate genes controlling soybean phosphorus utilization ...Insufficient available phosphorus in soil has become an important limiting factor for the improvement of yield and quality in soybean. The mining of QTLs and candidate genes controlling soybean phosphorus utilization related traits is a necessary strategy to solve this problem. In this study, 11 phosphorus utilization related traits of a natural population of 281 typical soybean germplasms and a recombinant inbred line(RIL) population of 270 lines were evaluated under different phosphorus conditions at two critical stages: the four-leaf stage as the seedling critical stage was designated as the Tstage, and the six-leaf stage as the flowering critical stage was designated as the Tstage. In total, 200 single nucleotide polymorphism(SNP) loci associated with phosphorus utilization related traits were identified in the natural population, including 91 detected at the Tstage, and 109 detected at the Tstage. Among these SNP loci, one SNP cluster(s715611375, ss715611377, ss715611379 and ss715611380) on Gm12 was shown to be significantly associated with plant height under the low phosphorus condition at the Tstage, and the elite haplotype showed significantly greater plant height than the others. Meanwhile, one pleiotropic SNP cluster(ss715606501, ss715606506 and ss715606543) on Gm10 was found to be significantly associated with the ratio of root/shoot, root and total dry weights under the low phosphorus condition at the Tstage, and the elite haplotype also presented significantly higher values for related characteristics under the phosphorus starvation condition. Furthermore, four co-associated SNP loci(ss715597964, ss715607012, ss715622173 and ss715602331) were identified under the low phosphorus condition at both the Tand Tstages, and 12 QTLs were found to be consistent with these genetic loci in the RIL population. More importantly, 14 candidate genes, including MYB transcription factor, purple acid phosphatase, sugar transporter and HSP20-like chaperones superfamily genes, etc., showed differential expression levels展开更多
Dogs represent such a rich potential resource to further understand diseases and genetic traits.Comparing the genomes of three species of canine,human,and rat in terms of genome analysis,it is found that dogs are high...Dogs represent such a rich potential resource to further understand diseases and genetic traits.Comparing the genomes of three species of canine,human,and rat in terms of genome analysis,it is found that dogs are highly conservative with humans and rats.The special population structure of dogs makes it a good model for studying the diversity of morphology and behavior,the genetic basis of mammalian evolution,and dis-eases.This article gives a brief review of recent advances in domestic dog origin and evolution,genomic structure,genetic variation in dog pheno-typic characteristics,and gene mapping.These research results are expected to provide a better theoretical basis for canine genetic breeding re-search and provide new ideas and methods for the prevention,diagnosis and treatment of human diseases.展开更多
目的:筛查冠心病血瘀证病证结合相关基因。方法:区组选择符合诊断标准的冠心病血瘀证、冠心病非血瘀证、非冠心病血瘀证患者和正常健康者共40例,运用外周血mRNA差异显示获得差异条带、反向Northern法阳性验证、克隆测序,并进行生物信息...目的:筛查冠心病血瘀证病证结合相关基因。方法:区组选择符合诊断标准的冠心病血瘀证、冠心病非血瘀证、非冠心病血瘀证患者和正常健康者共40例,运用外周血mRNA差异显示获得差异条带、反向Northern法阳性验证、克隆测序,并进行生物信息学分析。结果:得到了28条真实差异基因片段序列,于NCBI human genomic数据库中比对分析,获得了与人类基因100％同源的3条(b13、49b、23b),99％同源的2条(b12、36a),98％同源(25b、57d)2条。其中的b13为淋巴细胞活化信号分子家族成员1,表达于T、B细胞表面,参与多系统的炎症反应,促进Th2类细胞因子的分泌,在冠心病血瘀证组呈高表达。23b系BCL2相关转录因子1,参与凋亡调控基因BCL2的转录过程,明显表达于冠心病血瘀证组。结论:差异基因中b13、23b从不同途径,导致或参与了脂代谢、血液高粘高聚高凝状态的形成,并通过分泌炎性细胞因子,调控细胞凋亡,参与了内皮损伤和动脉硬化的形成。与冠心痛血瘀证的病理改变密切相关。展开更多
In cereals, the presence of soluble polysaccharides including（1,3;1,4）-b-glucan has downstream implications for human health, animal feed and biofuel applications. Sorghum bicolor（L.） Moench is a versatile crop, b...In cereals, the presence of soluble polysaccharides including（1,3;1,4）-b-glucan has downstream implications for human health, animal feed and biofuel applications. Sorghum bicolor（L.） Moench is a versatile crop, but there are limited reports regarding the content of such soluble polysaccharides.Here, the amount of（1,3;1,4）-b-glucan present in sorghum tissues was measured using a Megazyme assay. Very low amounts were present in the grain, ranging from 0.16%–0.27%（w/w）, while there was a greater quantity in vegetative tissues at 0.12–1.71%（w/w）. The fine structure of（1,3;1,4）-b-glucan, as denoted by the ratio of cellotriosyl and cellotetraosyl residues,was assessed by high performance liquid chromatography（HPLC） and ranged from 2.6–3：1 in the grain, while ratios in vegetative tissues were lower at 2.1–2.6：1. The distribution of（1,3;1,4）-b-glucan was examined using a specific antibody and observed with fl uorescence and transmission electron microscopy. Micrographs showed a variable distribution of（1,3;1,4）-b-glucan in fl uenced by temporal and spatial factors. The sorghum orthologs of genes implicated in the synthesis of（1,3;1,4）-b-glucan in other cereals, such as the Cellulose synthase-like（Csl） F and H gene families were de fined.Transcript pro filing of these genes across sorghum tissues was carried out using real-time quantitative polymerase chain reaction, indicating that, as in other cereals, Csl F6 transcripts dominated.展开更多
文摘<strong>Introduction:</strong> The goal of this study was to utilize physical characteristics instead of placing subjects in arbitrary diagnostic categories to test for associations with genetic variants. <strong>Methods:</strong> Forty-four single nucleotide polymorphisms were tested for association with specific cephalometric measurements in thirty-nine University of Pittsburgh Dental Registry and DNA Repository orthodontic subjects. Cephalometric measurements included an evaluation of FMA, a Wits appraisal, and a Steiner’s ANB analysis. Genetic markers were genotyped using polymerase chain reaction and Taqman chemistry. Chi-square and Fischer’s exact tests (α = 0.05) were used in investigation of overrepresentation of marker alleles. Samples were divided into groups based upon having an FMA, Wits, or ANB measurement above or below the mean of the cohort studied. Secondary analysis was done for sex and ethnicity to determine their effect on FMA, Wits, or ANB. <strong>Results: </strong>An association between FMA measurements was discovered in the following genes: ACTN3, CASP4, ESR1, FGF13, KRT7, and PITX2. An association between Wits measurements was discovered in the following genes: ACTN2, BTBD11, CASP4, FGF3, and FGF10. No associations were found with ANB.<strong> Conclusions: </strong>Genetic markers in several genes at different loci may contribute to craniofacial deformities in humans. This approach of using physical measurements may be an advantage to placing patients in arbitrary diagnostic categories.
基金funded by the Project of Hebei Province Science and Technology Support Program,China(17927670H and 16227516D-1)。
文摘Insufficient available phosphorus in soil has become an important limiting factor for the improvement of yield and quality in soybean. The mining of QTLs and candidate genes controlling soybean phosphorus utilization related traits is a necessary strategy to solve this problem. In this study, 11 phosphorus utilization related traits of a natural population of 281 typical soybean germplasms and a recombinant inbred line(RIL) population of 270 lines were evaluated under different phosphorus conditions at two critical stages: the four-leaf stage as the seedling critical stage was designated as the Tstage, and the six-leaf stage as the flowering critical stage was designated as the Tstage. In total, 200 single nucleotide polymorphism(SNP) loci associated with phosphorus utilization related traits were identified in the natural population, including 91 detected at the Tstage, and 109 detected at the Tstage. Among these SNP loci, one SNP cluster(s715611375, ss715611377, ss715611379 and ss715611380) on Gm12 was shown to be significantly associated with plant height under the low phosphorus condition at the Tstage, and the elite haplotype showed significantly greater plant height than the others. Meanwhile, one pleiotropic SNP cluster(ss715606501, ss715606506 and ss715606543) on Gm10 was found to be significantly associated with the ratio of root/shoot, root and total dry weights under the low phosphorus condition at the Tstage, and the elite haplotype also presented significantly higher values for related characteristics under the phosphorus starvation condition. Furthermore, four co-associated SNP loci(ss715597964, ss715607012, ss715622173 and ss715602331) were identified under the low phosphorus condition at both the Tand Tstages, and 12 QTLs were found to be consistent with these genetic loci in the RIL population. More importantly, 14 candidate genes, including MYB transcription factor, purple acid phosphatase, sugar transporter and HSP20-like chaperones superfamily genes, etc., showed differential expression levels
基金Supported by Special Project of Basic Work of Strengthening Police by Science and Technology of the Ministry of Public Security (2018GABJC27,2019GABJC29)Basic Research Program of Science and Technology Project from Yunnan Department of Science and Technology (Youth Project)(2019FD025)
文摘Dogs represent such a rich potential resource to further understand diseases and genetic traits.Comparing the genomes of three species of canine,human,and rat in terms of genome analysis,it is found that dogs are highly conservative with humans and rats.The special population structure of dogs makes it a good model for studying the diversity of morphology and behavior,the genetic basis of mammalian evolution,and dis-eases.This article gives a brief review of recent advances in domestic dog origin and evolution,genomic structure,genetic variation in dog pheno-typic characteristics,and gene mapping.These research results are expected to provide a better theoretical basis for canine genetic breeding re-search and provide new ideas and methods for the prevention,diagnosis and treatment of human diseases.
文摘目的:筛查冠心病血瘀证病证结合相关基因。方法:区组选择符合诊断标准的冠心病血瘀证、冠心病非血瘀证、非冠心病血瘀证患者和正常健康者共40例,运用外周血mRNA差异显示获得差异条带、反向Northern法阳性验证、克隆测序,并进行生物信息学分析。结果:得到了28条真实差异基因片段序列,于NCBI human genomic数据库中比对分析,获得了与人类基因100％同源的3条(b13、49b、23b),99％同源的2条(b12、36a),98％同源(25b、57d)2条。其中的b13为淋巴细胞活化信号分子家族成员1,表达于T、B细胞表面,参与多系统的炎症反应,促进Th2类细胞因子的分泌,在冠心病血瘀证组呈高表达。23b系BCL2相关转录因子1,参与凋亡调控基因BCL2的转录过程,明显表达于冠心病血瘀证组。结论:差异基因中b13、23b从不同途径,导致或参与了脂代谢、血液高粘高聚高凝状态的形成,并通过分泌炎性细胞因子,调控细胞凋亡,参与了内皮损伤和动脉硬化的形成。与冠心痛血瘀证的病理改变密切相关。
基金supported by funding from the Australian Development Scholarship (ADS),Australia Awards and the Australian Research Council Centre of Excellence in Plant Cell Walls,The University of Adelaide
文摘In cereals, the presence of soluble polysaccharides including（1,3;1,4）-b-glucan has downstream implications for human health, animal feed and biofuel applications. Sorghum bicolor（L.） Moench is a versatile crop, but there are limited reports regarding the content of such soluble polysaccharides.Here, the amount of（1,3;1,4）-b-glucan present in sorghum tissues was measured using a Megazyme assay. Very low amounts were present in the grain, ranging from 0.16%–0.27%（w/w）, while there was a greater quantity in vegetative tissues at 0.12–1.71%（w/w）. The fine structure of（1,3;1,4）-b-glucan, as denoted by the ratio of cellotriosyl and cellotetraosyl residues,was assessed by high performance liquid chromatography（HPLC） and ranged from 2.6–3：1 in the grain, while ratios in vegetative tissues were lower at 2.1–2.6：1. The distribution of（1,3;1,4）-b-glucan was examined using a specific antibody and observed with fl uorescence and transmission electron microscopy. Micrographs showed a variable distribution of（1,3;1,4）-b-glucan in fl uenced by temporal and spatial factors. The sorghum orthologs of genes implicated in the synthesis of（1,3;1,4）-b-glucan in other cereals, such as the Cellulose synthase-like（Csl） F and H gene families were de fined.Transcript pro filing of these genes across sorghum tissues was carried out using real-time quantitative polymerase chain reaction, indicating that, as in other cereals, Csl F6 transcripts dominated.
