首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 31 毫秒
1.
Adult height is a highly heritable trait in that multiple genes are involved. Recent genome‐wide association studies have identified a novel single‐nucleotide polymorphism (SNP) rs1042725 in the high mobility group‐A2 gene (HMGA2) and shown it to be associated with human height in Caucasian populations. We performed a replication study to examine the associations between SNPs in HMGA2 and adult height in the Japanese population based on autopsy cases. Although we could not confirm a significant association between rs1042725 in HMGA2 and adult height, another SNP, rs7968902, in the gene achieved significance for its association in the same populations, and the effect was the same as that documented previously. These findings permit us to conclude that the SNPs in HMGA2 are common variants influencing human height across different populations. Moreover, a worldwide population study of these SNPs using 14 different populations including Asians, Africans and Caucasians demonstrated that both haplotypes and genotypes for three height‐related SNPs (rs1042725, rs7968682 and rs7968902) in HMGA2 were distributed in an ethnicity‐dependent manner. This information will be useful for clarifying the genetic basis of human height.  相似文献   

2.
Keratin‐associated proteins (KAPs) are one of the main structural components of the wool fibre. Variation in the KAP genes (KRTAPs) may affect the structure of KAPs and hence wool characteristics. In this study, we used PCR‐SSCP to analyse ovine KRTAP5‐4, a gene encoding a member of the KAP5 family. Five different PCR‐SSCP patterns were detected in the 250 sheep that were analysed. Either one or a combination of two patterns was observed for each sheep, which was consistent with these sheep being either homozygous or heterozygous at this locus. DNA sequencing revealed that these patterns represent five different DNA sequences. One of the sequences was identical to a published ovine KRTAP5‐4 sequence. The remaining four were unique, but shared a high homology with the published ovine KRTAP5‐4 sequence, suggesting that these sequences represent allelic variants of KRTAP5‐4. There were a total of six SNPs and one length polymorphism in the sequences. Of the five SNPs found in the coding region, four were non‐synonymous SNPs and would result in amino acid changes. The length polymorphism would affect the cysteine content of the putative peptide and this along with the SNPs may have an impact on the structure of KAP5‐4, and hence affect wool traits.  相似文献   

3.
Mosaicism refers to the presence of genetically distinct cell lines within an organism or a tissue. Somatic mosaicism exists in distinct populations of somatic cells and commonly arises as a result of somatic mutations, mainly in early embryonic development. SNPs are important markers that distinguish between different individuals in heterogeneous biological samples and contribute greatly to disease risk association studies. In this work, we investigated the relationship between the functional variants in the 5′‐UTR of the hOGG1 gene and the risk of type 2 diabetes. Upon detection of the polymorphisms c.‐53G>C, c.‐23A>G, and c.‐18G>T in the hOGG1 gene, we found that mosaicism was present in 3/28 (10.71%), 7/51 (13.73%), and 1/44 (2.27%) patients respectively, who were carriers of these single nucleotide variations, by cloning and sequence analysis and pyrosequencing. Statistical analysis showed that the frequency of the variation c.‐23A>G in the hOGG1 5′‐UTR in type 2 diabetic patients was significantly higher than that in healthy controls. However, sequencing of the mutant alleles in mosaic individuals showed weak peaks that may affect detection of the SNPs and impair association‐based investigations.  相似文献   

4.
Tri‐O‐allylcellulose (degree of polymerization, DP ∼112) was prepared in ∼91% yield, and tri‐O‐crotylcellulose (DP ∼138) was prepared in ∼56% yield from microcrystalline cellulose (DP ∼172, and polydispersity index, PDI ∼1.95) using modified literature methods. Number‐average molecular weight (Mn = 31,600), weight‐average molecular weight (Mw = 191,800), and PDI = 6.07 data suggested that tri‐O‐allylcellulose may be crosslinking in air to generate branched chains. The polymer was stabilized with 100 ppm butylated hydroxy toluene (BHT). The material without BHT experienced glass transition (Tg, differential‐scanning calorimetry, DSC) between −2 and +3 °C, crosslinked beyond 100 °C, and degraded at 298.6 °C (by thermogravimetric analysis, TGA). Mn (45,100), Mw (118,200), PDI (2.62), and thermal data (Tg − 5 to +3 °C, melting point 185.8 °C, recrystallization 168.9 °C, and degradation 343.6 °C) on tri‐O‐crotylcellulose suggested that the polymer was formed with about the same polydispersity as the starting material and is heat stable. While allylcellulose generated continuous flexible yellow films by solution casting, crotylcellulose precipitated from solution as brittle white flakes. Dynamic mechanical analysis (DMA) data on allylcellulose films (Tg − 29.1 °C, Young's modulus 5.81 × 108 Pa) suggest that the material is tough and flexible at room temperature. All 1H and 13C resonances in the NMR spectra were identified and assigned using the following methods: Double‐quantum filter correlation spectroscopy (DQF COSY) was used to assign the network of seven protons in the anhydroglucose portion of the repeat unit. The proton assignments were verified and confirmed by total correlation spectroscopy (TOCSY). A combination of heteronuclear single‐quantum coherence (HSQC) and 13C spectroscopies were used to identify all bonded carbon–hydrogen pairs in the anhydroglucose portion of the repeat unit, and assign the carbon nuclei chemical shift values. Heteronuclear multiple bond correlation (HMBC) spectroscopy was used to connect the resonances of methines and methylenes at positions 2, 3, and 6 to the methylene resonances of the allyl ethers. TOCSY was used again to identify the fifteen 1H resonances in the three pendant allyl groups. Finally, a combination of HSQC, HMBC, and 13C spectroscopies were used to identify each carbon in the allyl pendants at 2, 3, and 6. Because of line broadening and signal overlap, we were unable to identify the conformational arrangement about the C5 and C6 bond in tri‐O‐allyl‐ and tri‐O‐crotylcelluloses. © 2000 John Wiley & Sons, Inc. J Polym Sci A: Polym Chem 38: 1889–1902, 2000  相似文献   

5.
DNA-based ancestry inference has long been a research hot spot in forensic science. The differentiation of Han Chinese population, such as the northern-to-southern substructure, would benefit forensic practice. In the present study, we enrolled participants from northern and southern China, each participant was genotyped at ∼400 K single-nucleotide polymorphisms (SNPs) and data of CHB and CHS from 1000 Genomes Project were used to perform genome-wide association analyses. Meanwhile, a new method combining genome-wide association study (GWAS) analyses with k-fold cross-validation in a small sample size was introduced. As a result, one SNP rs17822931 emerged with a p-value of 7.51E − 6. We also simulated a huge dataset to verify whether k-fold cross-validation could reduce the false-negative rate of GWAS. The identified ABCC11 rs17822931 has been reported to have allele frequencies varied with the geographical gradient distribution in humans. We also found a great difference in the allele frequency distributions of rs17822931 among five different cohorts of the Chinese population. In conclusion, our study demonstrated that even small-scale GWAS can also have potential to identify effective loci with implemented k-fold cross-validation method and shed light on the potential maker of rs17822931 in differentiating the north-to-south substructure of the Han Chinese population.  相似文献   

6.
Forensic analysis of mitochondrial displacement loop (D‐loop) sequences using Sanger sequencing or SNP detection by minisequencing is well established. Pyrosequencing has become an important alternative because it enables high‐throughput analysis and the quantification of individual mitochondrial DNAs (mtDNAs) in samples originating from more than one individual. DNA typing of the mitochondrial D‐loop region is usually the method of choice if STR analysis fails because of trace amounts of DNA and/or extensive degradation. The main aim of the present work was to optimize the efficiency of pyrosequencing. To do this, 31 SNPs within the hypervariable regions I and II of the D‐loop of human mtDNA were simultaneously analyzed. As a novel approach, we applied two sets of amplification primers for the multiplexing assay. These went in combination with four sequencing primers for pyrosequencing. This method was compared with conventional sequencing of mtDNA from blood and biological trace materials.  相似文献   

7.
A series of novel three‐arm star blocks consisting of three polyisobutylene‐b‐poly(methyl methacrylate) (PIB‐b‐PMMA) diblocks radiating from a tricumyl core were synthesized, characterized, and tested. The synthetic strategy involved three steps: the synthesis of Clt ‐tritelechelic PIB by living cationic isobutylene (IB) polymerization, the conversion of the Clt termini to isobutyryl bromide groups, and the initiation of living radical methyl methacrylate (MMA) polymerization by the latter groups. The PIB and PMMA segment lengths (Mn 's) could be controlled by controlling the conditions of the living cationic and radical polymerizations of IB and MMA, respectively. Core destruction analysis directly proved the postulated three‐arm microarchitecture. The structures of the products were analyzed by 1H NMR and Fourier transform infrared spectroscopies, and their thermal properties were analyzed by differential scanning calorimetry and thermogravimetric analysis. The presence of a low‐ and a high‐temperature glass transition (Tg,PIB ∼ −63°C, Tg,PMMA ∼ 120°C) indicated a phase‐separated micromorphology. Stress/strain analysis showed a tensile strength of up to ∼ 22.9 MPa and an elongation of ∼ 200%. © 2000 John Wiley & Sons, Inc. J Polym Sci A: Polym Chem 38: 706–714, 2000  相似文献   

8.
In this work, a reversed‐phase ultra‐HPLC (UHPLC) ultrahigh resolution MS (UHRMS) method was evaluated for the comprehensive profiling of NAs containing two O atoms in each molecule (O2NAs; general formula CnH2n + zO2, where n is the number of carbon atoms and z represents hydrogen deficiency). Using a polar cyanopropyl‐bonded phase column and negative‐ion electrospray ionization mass spectrometric detection at 120,000 FWHM (m/z 400), 187 and 226 O2NA species were found in two naphthenic acid technical mixtures, and 424 and 198 species with molecular formulas corresponding to O2NAs were found in two oil sands process‐affected water samples (one from a surface mining operation and the other from a steam‐assisted gravity drainage operation), respectively. To our knowledge, these are the highest numbers of molecular compositions of O2NAs that have been profiled thus far in environmental samples. Assignments were based on accurate mass measurements (≤3 ppm) combined with rational molecular formula generation, correlation of chromatographic behavior of O2NA homologues with their elemental compositions, and confirmation with carboxyl group‐specific chemical derivatization using 3‐nitrophenylhydrazine. Application of this UHPLC–UHRMS method to the quantitation of O2NAs in the surface mining operation‐derived water sample showed excellent linearity (R2 = 0.9999) with external calibration, a linear range of 256‐fold in concentration, and quantitation accuracies of 64.9 and 69.4% at two “standard substance” spiking levels.  相似文献   

9.
A novel electron‐accepting unit cyclopenta[2,1‐b:3,4‐c′]dithiophene‐4‐one (CPDTO‐c′), which is an isomer of CPDTO‐b′ was developed. CPDTO‐c′ can be incorporated into the D–A backbone through 5, 7 positions. The 2 position of CPDTO‐c′ can be easily functionalized with an electron‐withdrawing chain. By copolymerizing CPDTO‐c′ with four different donor units: benzo[1,2‐b:4,5‐b′]dithiophene (BDT), dithieno[3,2‐b:2′,3′‐d]silole (DTS), carbazole, and fluorene, four new conjugated copolymers P1 – P4 were obtained. All these polymers have good solubility and low‐lying HOMO energy levels (−5.41 ∼ −5.92 eV). Among them, P1 and P2 exhibit broad absorption and narrow optical bandgaps of 1.91 and 1.72 eV, respectively. Solar cells based on P1 /PC71BM afforded a PCE up to 2.72% and a high Voc up to ∼0.9 V.  相似文献   

10.
A rapid ultra‐performance convergence chromatography method was developed for the quantitative determination of bioactive compounds in Aralia continentalis as quality control markers. Quantitative analysis indicated the presence of two major bioactive compounds: diterpenoid acids continentalic acid and kaurenoic acid. Using a Torus 1‐aminoanthracene column, continentalic acid and kaurenoic acid were separated in less than 8 min. The method was validated with respect to precision, accuracy, and linearity according to the International Conference on Harmonization guidelines. The optimized method exhibited a good linear correlation (r 2 > 0.996), excellent precision (RSD < 1.0%), and acceptable recoveries (99.97–100.26%). Limits of detection for continentalic acid and kaurenoic acid were 0.068 and 0.097 μg/mL, respectively, while their corresponding limits of quantitation were 0.207 and 0.295 μg/mL. The system performance of ultra‐performance convergence chromatography was compared with that of conventional high‐performance liquid chromatography with respect to analysis time and efficiency. The proposed method was found to be reliable and convenient for the quantitative analysis of continentalic acid and kaurenoic acid in A. continentalis from South Korea and A. pubescens from China. This study is expected to serve as a guideline for the quality control of Aralia continentalis .  相似文献   

11.
How to determine the multipesticide residues in vegetables is an important problem. In this study, a new molecularly imprinted polymer was synthesized using O,O‐dimethyl thiophosphoryl chloride, an intermediate for the manufacture of organophosphorous pesticides, as the template. Characterization test indicated that the synthesized polymer exhibited good recognition and selectivity for dichlorvos, methamidophos, acephate, folimat, monocrotophos, parathion‐methyl, phosphamidon, and malathion. A molecularly imprinted SPE coupled to GC for simultaneous separation and determination of eight organophosphorous pesticides residues was developed. Under optimal conditions, the linear range of this method was 0.001–10.0 mg/L. The LOD of this method was in the range of 0.13–0.90 μg/kg. With a flow rate of 2.5 mL/min for loading 100 mL, the enrichment factor in the range of 25–480 for the eight organophosphorous pesticides was obtained. The RSD of the eight organophosphorous pesticides based on five replicates was from 1.50 to 4.09%. The accuracy of the proposed method was evaluated by recovery measurements on spiked samples, and good recovery rates ranging from 80.11 to 97.70% were achieved. Moreover, this method was evaluated for the quantitative detection of eight organophosphorous pesticide residues in leek and pakchoi samples.  相似文献   

12.
The bulk polycondensation of L ‐aspartic acid (ASP) with an acid catalyst under batch and continuous conditions was established as a preparative method for producing poly(succinimide) (PSI). Although sulfuric acid, p‐toluenesulfonic acid, and methanesulfonic acid were effective at producing PSI in a high conversion of ASP, o‐phosphoric acid was the most suitable catalyst for yielding PSI with a high weight‐average molecular weight (Mw) in a quantitative conversion; that is, the Mw value was 24,000. For the continuous process using a twin‐screw extruder at 3.0 kg · h−1 of the ASP feed rate, the conversion was greater than 99%, and the Mw value was 23,000 for the polycondensation with 10 wt % o‐phosphoric acid at 260°C. Sodium polyaspartate (PASP‐Na) originating from the acid‐catalyzed polycondensation exhibited high biodegradability and calcium‐ion‐chelating ability. The total organic carbon value was 86 ∼ 88%, and 100 g of PASP‐Na chelated with 5.5 ∼ 5.6 g of calcium ion, which was similar to the value for PASP‐Na from the acid‐catalyzed polycondensation with a mixed solvent © 2000 John Wiley & Sons, Inc. J Polym Sci A: Polym Chem 38: 117–122, 2000  相似文献   

13.
A boron‐doped diamond (BDD) electrode coupled to flow injection analysis (FIA) was firstly developed for determination of N‐acetyl‐L ‐cysteine (NAC) in drug formulations. The effects of experimental parameters including pH, applied potential and scan rate on the response were investigated. FIA amperometry was applied as an automatic method for the quantitative detection of trace amounts of NAC. A wide linear range of 0.5–50 µmol/L and a low detection limit of 10 nmol/L were obtained. The results of amperometric determinations show a very good reproducibility, and the RSD for the measurement based on 10 measurements was <3.7 % and <4.1 % for intra‐ and inter‐day, respectively. The benefits of the proposed method are fast, simple, sensitive and no requirement of complicated operational steps.  相似文献   

14.
A simple, rapid and economical method was developed and validated for the analysis and quantification of 1‐(propan‐2‐ylamino)‐4‐propoxy‐9H ‐thioxanthen‐9‐one (TX5), a P‐glycoprotein inducer/activator, in biological samples, using reverse‐phase high‐performance liquid chromatography (HPLC). A C18 column and a mobile phase composed of methanol–water (90/10, v /v) with 1% (v/v) triethylamine, at a flow rate of 1 mL/min, were used for chromatographic separation. TX5 standards (0.5–150 μm ) were prepared in human serum. Methanol was used for TX5 extraction and serum protein precipitation. After filtration, samples were injected into the HPLC apparatus and TX5 was quantified by a conventional UV detector at 255 nm. The TX5 retention time was 13 min in this isocratic system. The method was validated according to ICH guidelines for specificity/selectivity, linearity, accuracy, precision, limits of detection and quantification (LOD and LOQ) and recovery. The method was proved to be selective, as there were no interferences of endogenous compounds with the same retention time of TX5. Also, the developed method was linear (r 2 ≥ 0.99) for TX5 concentrations between 0.5 and 150 μm and the LOD and LOQ were 0.08 and 0.23 μm , respectively. The results indicated that the reported method could meet the requirements for TX5 analysis in the trace amounts expected to be present in biological samples.  相似文献   

15.
《Electrophoresis》2017,38(3-4):513-520
For the development of clinically useful genotyping methods for SNPs, accuracy, simplicity, sensitivity, and cost‐effectiveness are the most important criteria. Among the methods currently being developed for SNP genotyping technology, the ligation‐dependent method is considered the simplest for clinical diagnosis. However, sensitivity is not guaranteed by the ligation reaction alone, and analysis of multiple targets is limited by the detection method. Although CE is an attractive alternative to error‐prone hybridization‐based detection, the multiplex assay process is complicated because of the size‐based DNA separation principle. In this study, we employed the ligase detection reaction coupled with high‐resolution CE‐SSCP to develop an accurate, sensitive, and simple multiplex genotyping method. Ligase detection reaction could amplify ligated products through recurrence of denaturation and ligation reaction, and SSCP could separate these products according to each different structure conformation without size variation. Thus, simple and sensitive SNP analysis can be performed using this method involving the use of similar‐sized probes, without complex probe design steps. We found that this method could not only accurately discriminate base mismatches but also quantitatively detect 37 SNPs of the tp53 gene, which are used as targets in multiplex analysis, using three‐color fluorescence‐labeled probes.  相似文献   

16.
A simple, sensitive and specific reverse‐phase high‐performance liquid chromatographic (RP‐HPLC) method with fluorescence detection was developed for quantitation of quinidine from HBSS buffer. The method was applicable in the bi‐directional transport assay for evaluation of the inhibitory effect of test compounds on P‐glycoprotein‐mediated quinidine transport; quinidine was used as a probe P‐glycoprotein substrate. The calibration curve was linear (correlation coefficient ≥99) in the range 0.30–100.00 nm. The method was validated and is specific and sensitive with limit of quantitation of 300 pm for quinidine. The method was found to be accurate and precise in the working calibration range. Stability studies were carried out at different storage conditions where the analyte was found to be stable. The applicability and reliability of the analytical method was evaluated by successful demonstration of efflux ratio (PappB → A/PappA → B) in the Caco‐2 cell monolayer efflux assay. The efflux ratio for quinidine (100 nm) alone was 10.8, which reduced to less than 2 in the presence of the classical P‐gp inhibitors verapamil and ketoconazole (100 μm each). Copyright © 2009 John Wiley & Sons, Ltd.  相似文献   

17.
Accuracy, simplicity, and cost‐effectiveness are the most important criteria for a genotyping method for SNPs compatible with clinical use. One method developed for SNP genotyping, ligase‐based discrimination, is considered the simplest for clinical diagnosis. However, multiplex assays using this method are limited by the detection method. Although CE has been introduced as an alternative to error prone microarray‐based detection, the design process and multiplex assay procedure are complicated because of the DNA size‐dependent separation principle. In this study, we developed a simple and accurate multiplex genotyping method using reaction condition‐optimized ligation and high‐resolution CE‐based SSCP. With this high‐resolution CE‐SSCP system, we are able to use similar‐sized probes, thereby eliminating the complex probe design step and simplifying the optimization process. We found that this method could accurately discriminate single‐base mismatches in SNPs of the tp53 gene, used as targets for multiplex detection.  相似文献   

18.
《Electrophoresis》2017,38(9-10):1251-1259
Frontal analysis capillary electrophoresis was used to evaluate the binding performance of molecularly imprinted microspheres (MIM) toward its template histamine and analogs at pH 7, and compared to the high performance liquid chromatographic method. In both methods, batch binding was employed and the binding parameters were calculated from the measured concentration of unbound amine analytes and afforded comparable histamine equilibrium dissociation constants (K d ∼ 0.4 mM). FACE was easily carried out at shorter binding equilibration time (i.e. 30 min) and without the need to separate the microspheres, circumventing laborious and, in the case of the system under study, inefficient sample filtration. It also allowed for competitive binding studies by virtue of its ability to distinctly separate intact microspheres and all tested amines which could not be resolved in HPLC. K d’s for nonimprinted (control) microspheres (NIM) from FACE and HPLC were also comparable (∼ 0.6 mM) but at higher histamine concentrations, HPLC gave lower histamine binding. This discrepancy was attributed to inefficient filtration of the batch binding samples prior to HPLC analysis resulting in an over‐estimation of the concentration of free histamine brought about by the presence of unfiltered histamine‐bound microspheres.  相似文献   

19.
《Electroanalysis》2003,15(11):961-968
The electrochemically initiated reaction of p‐phenylenediamines with sulfide in aqueous media is well documented. We now report the adaptation of this chemistry into nonaqueous media. This is critically appraised as a means of detecting sulfide. The electrochemically initiated reaction of N,N‐diethyl‐p‐phenylenediamine with sulfide is shown at both macro‐ and platinum microdisk electrodes with quantitative detection of sulfide produced by means of the enhanced currents observed upon its addition. The linear detection range for sulfide is dependent on the concentration of N,N‐diethyl‐p‐phenylenediamine present with a linear range from 28–3290 μM and a limit of detection of 22 μM achievable. This represents a large increase compared to that found previously in aqueous media and offers the prospect of more ready applications in high temperature systems.  相似文献   

20.
A series of polyester‐amides that contain phosphorus were synthesized by low temperature solution condensation of 1,4‐bis(3‐aminobenzoyloxy)‐2‐(6‐oxido‐6H‐dibenz〈c,e〉〈1,2〉oxaphosphorin‐6‐yl) phenylene (III) with various aromatic acid chlorides in N‐methyl pyrrolidone (NMP). All polyester‐amides are amorphous and readily soluble in many organic solvents such as dimethylacetamide (DMAc), NMP, dimethylsulfoxide, and dimethylformamide at room temperature or on heating. Light yellow and flexible films of these polyester‐amides could be cast from the DMAc solutions. The polymers with an inherent viscosity of 0.26–0.72 dL/g were obtained in quantitative yields. These polyester‐amides have good mechanical properties (G′ of ∼ 109 Pa up to 200°C) and good thermal and flame retardant properties. The glass transition temperatures of these polyester‐amides ranged from 250 to 273°C. The degradation temperatures (Td 5%) in nitrogen ranged from 466 to 478°C and the char yields at 800°C were 59.6–65.2%. The limiting oxygen indexes of these polyester‐amides ranged from 35 to 43. © 1999 John Wiley & Sons, Inc. J Polym Sci A: Polym Chem 37: 891–899, 1999  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号