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1.
Nature ; 595(7867): 361-369, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34262215

RESUMO

With the rapid growth and development of proton-exchange membrane fuel cell (PEMFC) technology, there has been increasing demand for clean and sustainable global energy applications. Of the many device-level and infrastructure challenges that need to be overcome before wide commercialization can be realized, one of the most critical ones is increasing the PEMFC power density, and ambitious goals have been proposed globally. For example, the short- and long-term power density goals of Japan's New Energy and Industrial Technology Development Organization are 6 kilowatts per litre by 2030 and 9 kilowatts per litre by 2040, respectively. To this end, here we propose technical development directions for next-generation high-power-density PEMFCs. We present the latest ideas for improvements in the membrane electrode assembly and its components with regard to water and thermal management and materials. These concepts are expected to be implemented in next-generation PEMFCs to achieve high power density.

2.
BMC Cancer ; 24(1): 1148, 2024 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-39277718

RESUMO

BACKGROUND: Breast cancer (BC) poses significant burdens on women globally. While past research suggests a potential link between bone mineral density (BMD) and BC risk, findings remain inconsistent. Our study aims to elucidate the causal relationship between BMD and BC in East Asians using bidirectional Mendelian randomization (MR). METHODS: Genetic association data for bone mineral density T-scores (BMD-T) and Z-scores (BMD-Z) (Sample size = 92,615) and BC from two different sources (Sample size1 = 98,283; Sample size2 = 79,550) were collected from publicly available genome-wide association studies (GWAS). Single-nucleotide polymorphisms (SNPs) associated with BMD-T and BMD-Z as phenotype-related instrumental variables (IVs) were used, with BC as the outcome. As the primary means of causal inference, the inverse variance weighted (IVW) approach was employed. Heterogeneity analysis was conducted using Cochran's Q test, while MR-Egger regression analysis was implemented to assess the pleiotropic effects of the IVs. Sensitivity analyses were performed using methods such as MR-Egger, weighted median, and weighted mode to analyze the robustness and reliability of the results. The MR-PRESSO method and the RadialMR were used to detect and remove outliers. The PhenoScanner V2 website was utilized to exclude confounding factors shared between BMD and BC. Besides, the Bonferroni correction was also used to adjust the significance threshold. Then, the meta-analysis method was applied to combine the MR analysis results from the two BC sources. Finally, a reverse MR analysis was conducted. RESULTS: The results of the IVW method were consolidated through meta-analysis, revealing a positive correlation between genetically predicted BMD-T ([Formula: see text], [Formula: see text], [Formula: see text]) and BMD-Z ([Formula: see text],[Formula: see text], [Formula: see text]) with increased BC risk. The Cochran's [Formula: see text] test and MR-Egger regression suggested that neither of these causal relationships was affected by heterogeneity or horizontal pleiotropy. The sensitivity analyses supported the IVW results, indicating the robustness of the findings. Reverse MR analysis showed no causal relationship between BC and BMD. CONCLUSION: Our MR study results provide evidence for the causal relationship between BMD and BC risk in East Asian populations, suggesting that BMD screening is of great significance in detecting and preventing BC.


Assuntos
Povo Asiático , Densidade Óssea , Neoplasias da Mama , Estudo de Associação Genômica Ampla , Análise da Randomização Mendeliana , Polimorfismo de Nucleotídeo Único , Humanos , Densidade Óssea/genética , Feminino , Neoplasias da Mama/genética , Neoplasias da Mama/epidemiologia , Povo Asiático/genética , Predisposição Genética para Doença , Fatores de Risco , Ásia Oriental/epidemiologia , População do Leste Asiático
3.
Inorg Chem ; 61(23): 8854-8860, 2022 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-35642338

RESUMO

We present here the coordination self-assembly of a new heteroleptic (bpyPd)4L1L22 coordination complex (1) from one novel pyridinium-functionalized bis-2,4,6-tris(pyridin-3-yl)-1,3,5-triazine (bis-3-TPT, L1) macrocyclic ligand, two separate 3-TPT (L2) ligands, and four cis-blocking bpyPd(NO3)2 (bpy = 2,2'-bipyridine). While homoleptic self-assemblies with either L1 or L2 gave dynamic mixtures of products, a single thermodynamic heteroleptic complex was obtained driven by the shape complementarity of building blocks. Moreover, the redox-active nature of the heteroleptic assembly facilitates the highly efficient catalytic aerobic photo-oxidation of aromatic secondary alcohols under mild conditions.

4.
BMC Cardiovasc Disord ; 22(1): 378, 2022 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-35987992

RESUMO

BACKGROUND: Insulin resistance is one of the major mechanisms for cardiovascular events. Estimated glucose disposal rate(eGDR) has been demonstrated as a simple, accurate, and cost-effective estimator of insulin resistance. Our study aims to evaluate the correlation between eGDR and the prevalent IHD and assess the incremental value of eGDR for identifying prevalent IHD in the rural general population. METHODS: Our study enrolled 10,895 participants from a cross-sectional survey of a metabolic management program. The survey was conducted in the rural areas of southeastern China between October 2019 and April 2020. eGDR = 21.158 - (0.09 * waist circumference) - (3.407 * hypertension) - (0.551 * HbA1c). RESULTS: The prevalence of IHD was 4.20%. After adjusting for demographic, anthropometric, laboratory, and medical history covariates, each SD increase of eGDR brought a 25.9% risk reduction for prevalent IHD. After dividing eGDR into groups, the top group had a 58.9% risk reduction than the bottom group. Furthermore, smooth curve fitting demonstrated that the correlation between eGDR and prevalent IHD was linear in the whole range of eGDR. Additionally, AUC suggested that eGDR could significantly improve the identification of prevalent IHD by adding it to cardiovascular risk factors (0.703 vs. 0.711, P for comparison = 0.041). Finally, the category-free net reclassification index and integrated discrimination index also implicated the improvement from eGDR to identify prevalent IHD. CONCLUSION: Our data demonstrated a significant, negative, and linear correlation between eGDR and prevalent IHD. Our findings could suggest the potential usefulness of eGDR to improve the identification of prevalent IHD in the rural general population.


Assuntos
Diabetes Mellitus Tipo 1 , Resistência à Insulina , Isquemia Miocárdica , Glicemia/metabolismo , Estudos Transversais , Diabetes Mellitus Tipo 1/epidemiologia , Humanos , Isquemia Miocárdica/diagnóstico , Isquemia Miocárdica/epidemiologia , Fatores de Risco
5.
Ann Hum Biol ; 49(3-4): 204-209, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35815603

RESUMO

BACKGROUND: Xibe is the fifth largest minority population of Liaoning province. Predominately they live in Liaoning province (69.52%), followed by Xinjiang (18.06%), Heilongjiang (3.99%), Jilin (1.63%) and Inner Mongolia provinces (1.57%). AIM: To provide an updated and precise population database on an extended set of Y STRs not available before and explore the forensic characteristics of 26 Y chromosomal STRs. SUBJECTS & METHODS: In this study, we genotyped 406 unrelated Xibe male individuals from Liaoning province using Goldeneye® 26Y System kit and calculated the forensic parameters of these 26 Y STRs loci. RESULTS: All haplotypes generated for 406 Xibe samples using Goldeneye® 26Y kit were unique with a discrimination capacity (DC) of 1. On restricting the haplotypes to the Y-filer® set of 17 Y-STRs, we observed 392 haplotypes. Among them 93.53% (380) were unique with a DC of 0.9655 and haplotype diversity (HD) of 0.9998, showing high discrimination power of the extended set of markers in this population. Allelic frequencies ranged from 0.0024 to 0.7684 across 26 Y STRs loci. DYS385 showed the highest gene diversity (0.9691) among all markers. CONCLUSION: According to pairwise RST genetic distances among Xibe populations from China, the Liaoning Xibe population showed the closest genetic distance (0.0035) followed by Xinjiang Xibe population (0.0218). Multidimensional scaling (MDS) analysis among Xibe and 29 other Chinese populations showed that local populations such as Manchu from Liaoning and Han from Beijing had a close affinity while Tibetans from Aba, China, were most distant from Xibe populations. Moreover, 12 individuals showed a null allele at DYS448 in Xibe population samples. We submitted Y-STRs data in the Y-Chromosome Haplotype Reference Database (YHRD) for future forensic and other usage.


Assuntos
Cromossomos Humanos Y , Etnicidade , China , Cromossomos Humanos Y/genética , Etnicidade/genética , Frequência do Gene , Genética Populacional , Haplótipos , Humanos , Masculino , Repetições de Microssatélites
6.
J Am Chem Soc ; 143(4): 2016-2024, 2021 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-33471998

RESUMO

Stimuli-responsive structural transformations between discrete coordination supramolecular architectures not only are essential to construct smart functional materials but also provide a versatile molecular-level platform to mimic the biological transformation process. We report here the controlled self-assembly of three topologically unprecedented conjoined twin-cages, i.e., one stapled interlocked Pd12L6 cage (2) and two helically isomeric Pd6L3 cages (3 and 4) made from the same cis-blocked palladium corners and a new bis-bidentate ligand (1). While cage 2 features three mechanically coupled cavities, cages 3 and 4 are topologically isomeric helicate-based twin-cages based on the same metal/ligand stoichiometry. Sole formation of cage 2 or a dynamic mixture of cages 3 and 4 can be controlled by changing the solvents employed during the self-assembly. Structural conversions between cages 3 and 4 can be triggered by changes in both temperature/solvent and induced-fit guest encapsulations. Well-controlled interconversion between such topologically complex superstructures may lay a solid foundation for achieving a variety of functions within a switchable system.

7.
J Am Chem Soc ; 142(36): 15438-15444, 2020 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-32692913

RESUMO

The local pH variation near the surface of CO2 reduction electrodes is important but hard to study. We develop a continuous-flow Raman electrochemical cell that enables the first experimental study of the local pH near a CO2 reduction gas diffusion electrode under reaction conditions. At zero current, CO2 chemically reacts with the 1 M KOH electrolyte at the interface to form HCO3- and CO32-. The local pH on the cathode surface is 7.2, and the HCO3- concentration profile extends a distance of 120 µm into the electrolyte, which verifies that the nominal overpotential reduction from using alkaline electrolyte originates from the Nernst potential of the pH gradient layer at the cathode/electrolyte interface. The CO2-OH- neutralization reaction and the pH gradient layer still persist, albeit to a reduced extent, at CO2 reduction current densities up to 150 mA/cm2.

8.
Mol Genet Genomics ; 295(1): 221-231, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31641857

RESUMO

The Xinjiang Uyghur Autonomous Region of China (XUARC) with 47 ethnic groups is a very colorful ethnic region of China, harboring abundant genetic and cultural diversity. The Kazakhs are the third largest ethnic group (7.02%) after Uyghur (46.42%) and Han (38.99%) in Xinjiang, but their genetic diversity and forensic characterization are poorly understood. In the current study, we genotyped 15 autosomal short tandem repeat (STR) loci and ten Y-STRs in 889 individuals (659 male and 230 female) collected from Kazak population of the Ili Kazak Autonomous Prefecture using AGCU Expressmarker 16 and 10Y-STR Kit (EX16 + 10Y). For autosomal STRs, we observed a total of 174 different alleles ranging from 6 to 34.2 repeat units and FGA showed the greatest power of discrimination (20 alleles) in Ili Kazakh population. We have not observed departures from Hardy-Weinberg equilibrium (HWE) after sequential Bonferroni correction and only found a minimal departure from linkage equilibrium (LE) for a very small number of pairwise combinations of loci. The combined power of exclusion (CPE) was 0.99999998395 and combined power of discrimination (CPD) was 99.999999999999999798%. For Y-STRs, we observed a total of 496 different haplotypes in these ten Y-STR loci. The gene diversities ranged from 0.5023 (DYS391) to 0.8357 (DYS385a/b). The overall haplotype diversity (GD) was 0.9985 with random matching probability (RMP) of 0.0015. The results of population genetic analysis based on both autosomal and Y-chromosome STRs demonstrated that the genetic affinity among populations is generally consistent with ethnic, linguistic, and continental geographical classifications.


Assuntos
Povo Asiático/genética , Cromossomos/genética , Polimorfismo Genético/genética , Alelos , Feminino , Frequência do Gene/genética , Testes Genéticos/métodos , Genética Populacional/métodos , Haplótipos/genética , Humanos , Masculino , Repetições de Microssatélites/genética , Filogenia
9.
BMC Genet ; 21(1): 79, 2020 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-32689951

RESUMO

BACKGROUND: The HTR1B gene encodes the 5-hydroxytryptamine (5-HT1B) receptor, which is involved in a variety of brain activities and mental disorders. The regulatory effects of non-coding regions on genomic DNA are one of many reasons for the cause of genetic-related diseases. Post-transcriptional regulation that depends on the function of 3' regulatory regions plays a particularly important role. This study investigated the effects, on reporter gene expression, of several haplotypes of the HTR1B gene (rs6297, rs3827804, rs140792648, rs9361234, rs76194807, rs58138557, and rs13212041) and truncated fragments in order to analyze the function of the 3' region of HTR1B. RESULTS: We found that the haplotype, A-G-Del-C-T-Ins-A, enhanced the expression level compared to the main haplotype; A-G-Del-C-G-Ins-A; G-G-Del-C-G-Ins-G decreased the expression level. Two alleles, rs76194807T and rs6297G, exhibited different relative luciferase intensities compared to their counterparts at each locus. We also found that + 2440 ~ + 2769 bp and + 1953 ~ + 2311 bp regions both had negative effects on gene expression. CONCLUSIONS: The 3' region of HTR1B has a regulatory effect on gene expression, which is likely closely associated with the interpretation of HTR1B-related disorders. In addition, the HTR1B 3' region includes several effector binding sites that induce an inhibitory effect on gene expression.


Assuntos
Regulação da Expressão Gênica , Polimorfismo Genético , Receptor 5-HT1B de Serotonina/genética , Alelos , Linhagem Celular , Haplótipos , Humanos , MicroRNAs/genética
10.
Chemphyschem ; 21(3): 232-239, 2020 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-31849184

RESUMO

Solar-fuel formation via photoelectrochemical (PEC) routes using water and CO2 as feedstock has attracted much attention. Most PEC CO2 reduction studies have been focused on the development of novel photoactive materials; however, there is still a lack of understanding of the key limiting factors of this process. In this study, the theoretical limits of Solar-to-Fuel (STF) efficiencies of single- and dual-junction photo-absorbing materials are illustrated for single-step multi-electron CO2 reduction into fuels including HCOO- , CO, CH3 OH and C2 H5 OH. It is also highlighted that STF efficiency depends on the route of two-step PEC CO2 reduction process using CH3 OH as a model fuel. Finally, it is illustrated the beneficial role of alternative strategies such as dual-junction photo-absorbing electrodes, externally applied bias and subsequent reactor chambers on the maximum theoretical efficiencies of PEC CO2 reduction.

11.
Mol Cell Probes ; 54: 101653, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32866662

RESUMO

Ischemic heart disease is a proverbial and common cardiovascular disease, and constitutes a leading cause of disability and mortality globally. Myocardial ischemic/reperfusion (MI/R) injury is a highly orchestrated phenomenon that involves the excessive activation of high mobility group box 1 (HMGB1) signaling. In the present study, we sought to investigate the function of miR-708 in MI/R injury due to the predicted binding to HMGB1. Intriguingly, down-regulation of miR-708 and up-regulation of HMGB1 were observed in MI/R rat model and H9c2 cardiomyocytes exposed to hypoxia/reoxygenation (H/R) conditions. Dual luciferase reporter assays substantiated that HMGB1 was a direct target of miR-708. Moreover, miR-708 overexpression suppressed the mRNA and protein expression of HMGB1. Noticeably, elevation of miR-708 antagonized H/R-induced inhibition in cell viability; whilst, increased cell apoptosis evoked by H/R was restrained after miR-708 up-regulation. Simultaneously, miR-708 elevation suppressed H/R exposure-increased lactate dehydrogenase (LDH) release and reactive oxygen species (ROS) generation, but elevated the activity of anti-oxidative stress superoxide dismutase (SOD). Additionally, H/R-increased production of pro-inflammatory cytokine TNF-α and IL-6 was offset following miR-708 overexpression. Moreover, enhancement of miR-708 inhibited H/R-evoked activation of the HMGB1-TLR4-NF-κB pathway by inhibiting the protein levels of HMGB1, TLR4 and p-p65 NF-κB. Specially, restoring this pathway offset the protective effects of miR-708 on H/R-induced cardiomyocyte injury. Together, these data indicate that miR-708 may protect against H/R-induced cardiomyocyte damage by directing targeting HMGB1 signaling, implying a promising therapeutic agent against ischemic heart disease including myocardial infarction.


Assuntos
Cardiotônicos/metabolismo , Proteína HMGB1/metabolismo , Hipóxia/genética , MicroRNAs/metabolismo , Miócitos Cardíacos/metabolismo , Oxigênio/metabolismo , Transdução de Sinais , Receptor 4 Toll-Like/metabolismo , Animais , Sequência de Bases , Linhagem Celular , Citocinas/metabolismo , Modelos Animais de Doenças , Mediadores da Inflamação/metabolismo , Masculino , MicroRNAs/genética , Miócitos Cardíacos/patologia , NF-kappa B/metabolismo , Estresse Oxidativo , Ratos Sprague-Dawley , Regulação para Cima/genética
12.
BMC Psychiatry ; 20(1): 499, 2020 10 09.
Artigo em Inglês | MEDLINE | ID: mdl-33036580

RESUMO

BACKGROUND: The 5-hydroxytryptamine 1B receptor (5-HT1B) plays an essential role in the serotonin (5-HT) system and is widely involved in a variety of brain activities. HTR1B is the gene encoding 5-HT1B. Genome-wide association studies have shown that HTR1B polymorphisms are closely related to multiple mental and behavioral disorders; however, the functional mechanisms underlying these associations are unknown. This study investigated the effect of several HTR1B haplotypes on regulation of gene expression in vitro and the functional sequences in the 5' regulatory region of HTR1B to determine their potential association with mental and behavioral disorders. METHODS: Six haplotypes consisting of rs4140535, rs1778258, rs17273700, rs1228814, rs11568817, and rs130058 and several truncated fragments of the 5' regulatory region of HTR1B were transfected into SK-N-SH and HEK-293 cells. The relative fluorescence intensities of the different haplotypes and truncated fragments were detected using a dual-luciferase reporter assay system. RESULTS: Compared to the major haplotype T-G-T-C-T-A, the relative fluorescence intensities of haplotypes C-A-T-C-T-A, C-G-T-C-T-A, C-G-C-A-G-T, and C-G-T-A-T-A were significantly lower, and that of haplotype C-G-C-A-G-A was significantly higher. Furthermore, the effects of the rs4140535T allele, the rs17273700C-rs11568817G linkage combination, and the rs1228814A allele made their relative fluorescence intensities significantly higher than their counterparts at each locus. Conversely, the rs1778258A and rs130058T alleles decreased the relative fluorescence intensities. In addition, we found that regions from - 1587 to - 1371 bp (TSS, + 1), - 1149 to - 894 bp, - 39 to + 130 bp, + 130 to + 341 bp, and + 341 to + 505 bp upregulated gene expression. In contrast, regions - 603 to - 316 bp and + 130 to + 341 bp downregulated gene expression. Region + 341 to + 505 bp played a decisive role in gene transcription. CONCLUSIONS: HTR1B 5' regulatory region polymorphisms have regulatory effects on gene expression and potential correlate with several pathology and physiology conditions. This study suggests that a crucial sequence for transcription is located in region + 341 ~ + 505 bp. Regions - 1587 to - 1371 bp, - 1149 to - 894 bp, - 603 to - 316 bp, - 39 to + 130 bp, and + 130 to + 341 bp contain functional sequences that can promote or suppress the HTR1B gene expression.


Assuntos
Estudo de Associação Genômica Ampla , Transtornos Mentais , Células HEK293 , Haplótipos , Humanos , Transtornos Mentais/genética , Polimorfismo Genético/genética , Polimorfismo de Nucleotídeo Único/genética , Receptor 5-HT1B de Serotonina/genética , Receptores de Serotonina/genética
13.
Int J Immunogenet ; 47(2): 149-157, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31657139

RESUMO

Genetic structure of a population can be influenced by evolutionary processes and cultural histories which can alter the frequencies of different variants at particular genetic markers. These characteristics make DNA evidence suitable for forensic applications. Little relevant data are available from the interior Sindhi population; thus, in the current study, we have investigated 15 autosomal STRs in 181 unrelated individuals belonging to the interior parts of Sindh Pakistan, to establish its lineage and parameters of forensic interest. These STRs revealed a high power of discrimination (CPD), power of exclusion (CPE) and matching probability (CMP) are 0.9999999999999999968997, 0.99998612 and 3.1003 × 10-18 respectively. The genetic distances, neighbour-joining (NJ) tree, interactivity test and principal component analysis (PCA) based on 15 autosomal STR loci showed that the interior Sindhi population had a closer genetic relationship with Pakistani populations and distant relationships with regional (India and Afghanistan) populations. The present findings exhibited that STRs included in AmpFLSTR Identifiler kit (Applied Biosystems) are genetically polymorphic in the interior Sindhi population of Pakistan. This study provides valuable population genetic data for the genetic information study, forensic human individual identification and paternity testing.


Assuntos
Genética Populacional , Repetições de Microssatélites/genética , Filogenia , Humanos , Paquistão , Reação em Cadeia da Polimerase , Polimorfismo Genético
14.
Ann Hum Biol ; 47(6): 560-563, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32762259

RESUMO

BACKGROUND: In China, most Koreans live in the Northeast, including Jilin (59.64%), Heilongjiang (20.21%), and Liaoning (12.55%) provinces, while the rest are spread to other parts of China. Koreans across China share a common culture, which is similar to Korea. AIM: The Combined DNA Index System or CODIS has been increased from thirteen to twenty loci, so it is important to generate improved profiles with the help of these additional loci. SUBJECTS AND METHODS: In the current study we have analysed 564 unrelated individuals from the Yanbian Korean population using the GoldenEyeTM 20 A kit (Beijing PeopleSpot Inc). Allelic frequencies, population comparisons and forensic statistical parameters of commonly used short tandem repeats were calculated for the Yanbian Korean population from Jilin province, P.R. China. RESULTS: A total of 232 alleles were observed and all the loci were found to be in Hardy-Weinberg equilibrium after Bonferroni correction. The combined power of discrimination was 99. 999999999999999999999913% and the combined power of exclusion was 0.999999995349261. CONCLUSION: Phylogenetic parameters showed that the Yanbian Koreans living in Jilin had the closest genetic relationship with South Koreans and other East Asian populations. The present study provides a precise reference database of Jilin Koreans for forensic applications and studies of population genetics.


Assuntos
Frequência do Gene/genética , Variação Genética , Repetições de Microssatélites/genética , Filogenia , China , Feminino , Humanos , Coreia (Geográfico)/etnologia , Masculino
15.
Ann Hum Genet ; 83(3): 134-140, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30506867

RESUMO

BACKGROUND: China harbors 56 ethnic groups, including Korean, with a population size of approximately 1.92 million at the 2010 census. Most of the Koreans live in Northeastern parts of China, including Jilin (59.64%), Heilongjiang (20.21%), and Liaoning (12.55%) provinces, and the rest are spread to other parts of China. Koreans across China share a common culture, which is similar to Korea. METHODS: We have explored the genetic characteristics of 20 Y-chromosomal short tandem repeat (Y-STR) loci in 252 unrelated Chinese Korean male individuals from Jilin Province, using a Goldeneye 20Y amplification kit. Moreover, phylogenetic analysis was performed between the Korean population and other relevant populations based on the Y-STR haplotypes. RESULTS: We have found 237 different haplotypes among 252 unrelated individuals. The haplotype frequencies ranged from 0.0238 to 0.0040, while gene diversity ranged from 0.9666 (DYS385a/b) to 0.2260 (DYS391). The random match probability was 0.0048, the haplotype diversity was 0.9992 ± 0.0006 and discrimination capacity was 0.9405. Population comparison revealed that Korean populations are lining up together with other Korean populations from East Asia. CONCLUSION: Our results showed that the 20 Y-STR loci in the Yanbian Korean population are valuable for forensic application and human genetics. The Yanbian Koreans have lined up with other Korean population from China and Korea while showing significant differences from other East Asian populations.


Assuntos
Cromossomos Humanos Y/genética , Etnicidade/genética , Genética Populacional , Povo Asiático/genética , China , Frequência do Gene , Haplótipos , Humanos , Masculino , Filogenia , República da Coreia/etnologia
16.
BMC Med Genet ; 20(1): 26, 2019 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-30704411

RESUMO

BACKGROUND: Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. Abnormal glutamate ionotropic N-methyl-D-aspartate receptor (NMDA) type subunit 1 (NR1) may be a potential cause of schizophrenia. METHODS: We conducted a case-control study to investigate the association between the GRIN1 gene, which encodes the NR1 subunit, and the risk of schizophrenia in a northern Chinese Han population using Sanger DNA sequencing. The dual luciferase reporter assay was used to detect the influence of two different haplotypes on GRIN1 gene expression. RESULTS: Seven SNPs (single nucleotide polymorphisms), including rs112421622 (- 2019 T/C), rs138961287 (- 1962--1961insT), rs117783907 (-1945G/T), rs181682830 (-1934G/A), rs7032504 (-1742C/T), rs144123109 (-1140G/A), and rs11146020 (-855G/C) were detected in the study population. Rs117783907 (-1945G/T) was associated with the occurrence of schizophrenia as a protective factor. The genotype frequencies of rs138961287 (- 1962--1961insT) and rs11146020 (-855G/C) were statistically different between cases and controls (p < 0.0083). The other four variations were not shown to be associated with the disease. Two haplotypes were composed of the seven SNPs, and distribution of T-del-G-G-C-G-G was significantly different between the case and control groups. However, the dual luciferase reporter assay showed that neither of the haplotypes affected luciferase expression in HEK-293 and SK-N-SH cell lines. CONCLUSIONS: The GRIN1 gene may be related to the occurrence of schizophrenia. Additional research will be needed to fully ascertain the role of GRIN1 in the etiology of schizophrenia.


Assuntos
Povo Asiático/etnologia , Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único , Receptores de N-Metil-D-Aspartato/genética , Esquizofrenia/genética , Análise de Sequência de DNA/métodos , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Células HEK293 , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Elementos Reguladores de Transcrição , Esquizofrenia/etnologia
17.
Electrophoresis ; 40(11): 1591-1599, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30740746

RESUMO

Semi-nested PCR with allele-specific (AS) primers and sequencing of mitochondrial DNA (mtDNA) were performed to analyze and interpret DNA mixtures, especially when biological materials were degraded or contained a limited amount of DNA. SNP-STR markers were available to identify the minor DNA component using AS-PCR; moreover, SNPs in mtDNA could be used when the degraded or limited amounts of DNA mixtures were not successful with SNP-STR markers. Five pairs of allele-specific primers were designed based on three SNPs (G15043A, T16362C, and T16519C). The sequence of mtDNA control region of minor components was obtained using AS-PCR and sequencing. Sequences of the amplification fragments were aligned and compared with the sequences of known suspects or databases. When this assay was used with the T16362C and T16519C SNPs, we found it to be highly sensitive for detecting small amounts of DNA (∼30 pg) and analyzing DNA mixtures of two contributors, even at an approximately 1‰ ratio of minor and major components. An exception was tests based on the SNP G15043A, which required approximately 300 pg of a 1% DNA mixture. In simulated three contributor DNA mixtures (at rate of 1:1:1), control region fragments from each contributor were detected and interpreted. AS-PCR combined with semi-nested PCR was successfully used to identify the mtDNA control region of each contributor, providing biological evidence for excluding suspects in forensic cases, especially when biological materials were degraded or had a limited amount of DNA.


Assuntos
DNA Mitocondrial/genética , DNA/análise , Reação em Cadeia da Polimerase/métodos , Alelos , Primers do DNA , Genética Forense/métodos , Humanos , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
18.
Faraday Discuss ; 215(0): 329-344, 2019 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-30942213

RESUMO

Utilising photoelectrochemical (PEC) devices to produce sustainable fuels from water and CO2 is a very attractive strategy, in which sunlight is used to convert the greenhouse gas (CO2) into a usable form of stored chemical energy. While significant progress has been made in the development of efficient photoactive catalysts for PEC reactions, limited efforts have been focused on the reactor design where continuous flow microfluidic PEC reactors are particular promising. In this work, a range of CuO-based thin films were used as photocathodes in a continuous flow microfluidic PEC reactor using CO2-saturated aqueous NaHCO3 solution under simulated AM 1.5 solar irradiation for up to 12 h. The highest photocurrent density obtained was for the α-Fe2O3/CuO photoelectrode yielding -1.0 mA cm-2 at 0.3 V vs. RHE and initial results indicated a solar-to-fuel (STF) efficiency of 0.48%. While the CuO, Cu2O and CuO-Cu2O photoelectrodes virtually only formed formate, the bilayer α-Fe2O3/CuO photocathode produced methanol in addition to formate indicating that combined copper and iron oxides in continuous flow microfluidic PEC cells have great potential of direct solar conversion into useful chemicals.

19.
BMC Psychiatry ; 18(1): 303, 2018 09 19.
Artigo em Inglês | MEDLINE | ID: mdl-30231895

RESUMO

BACKGROUND: Schizophrenia is associated with multiple neurotransmitter disorders, including serotonin (5-hydroxytryptamine, 5-HT). The neuromodulatory action of serotonin on brain function largely depends on the action of specific subtypes of serotonin receptors. The serotonin receptor 1B (HTR1B) gene has been proposed to play putative roles in the development of multiple emotional and psychiatric disorders. METHODS: To study the relationship of HTR1B polymorphisms and schizophrenia, gene information was drawn from a cohort of 310 schizophrenic patients (152 men and 158 women) and 313 healthy controls (153 men and 160 women) of northern Han Chinese descent. The χ2 test was used to compare allele and genotype distributions between case and control groups. The haplotype and linkage equilibrium were also assessed in two group comparisons. RESULTS: We detected 14 SNPs. Male patients were observed to have higher frequencies of the A-allele and AA+AG genotype at rs1778258 than female patients (p = 0.012 and p = 0.015, respectively). Both the A-allele and AA+AG genotype were associated with schizophrenia risk (OR = 1.986 and OR = 2.061, respectively), although the statistical significance of the genotype was lost after Bonferroni correction. Linkage analysis showed that rs17273700, rs11568817, rs9361234 and rs58138557 polymorphisms exhibit strong linkage disequilibrium (LD). In addition, schizophrenic patients show stronger linkage between 11,568,817 and rs130058 than healthy controls. CONCLUSIONS: HTR1B polymorphisms are associated with schizophrenia in the northern Han Chinese population, which provides an etiological reference for schizophrenia.


Assuntos
Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Receptor 5-HT1B de Serotonina/genética , Esquizofrenia/genética , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , China , Feminino , Marcadores Genéticos , Genótipo , Haplótipos , Humanos , Masculino
20.
Chem Soc Rev ; 46(3): 855-914, 2017 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-28105472

RESUMO

This article provides an up-to-date highly comprehensive overview (594 references) on the state of the art of the synthesis and design of macroporous materials using microfluidics and their applications in different fields.

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