Forensic Sciences Research
·
2022
·
IF 0
Qi Yang,Huan Yu,Yiling Qu,Xiaochun Zhang,Ruocheng Xia,Ziwei Wang,Rui Tan,Lei Xiong,Shihan Xi,Jun Wu,Yuzhen Gao,Suhua Zhang,Chengtao Li
Insertion/deletion polymorphisms (InDels) have been treated as a prospective and helpful genetic marker in the fields of forensic human identification, anthropology and population genetics for the past few years. In this study, we developed a six-dye multiplex typing system consisting of 34 autosomal InDels and Amelogenin for forensic application. The contained InDels were specifically selected for Chinese population with the MAF ≥ 0.25 in East Asia, which do not overlap with the markers of Investigator® DIPplex kit. The typing system was named as GoldeneyeTM DNA ID System 35InDel Kit, and a series of developmental validation studies including repeatability/reproducibility, concordance, accuracy, sensitivity, stability, species specificity and population genetics were conducted on this kit. We confirmed that the 35InDel kit is precise, sensitive, species specific and robust for forensic practice. Moreover, the 35InDel kit is capable of typing DNA extracted from forensic routine case-type samples as well as degraded samples and mixture samples. All markers are proved to be highly polymorphic with an average observed heterozygosity (He) of 0.4582. The combined power of discrimination (CPD) is 0.999 999 999 999 978 and the combined power of exclusion in duos (CPED) and trios (CPET) are 0.978 837 and 0.999573, respectively, which are higher than those of the Investigator® DIPplex kit. Thus, the GoldeneyeTM DNA ID System 35InDel kit is suitable for forensic human identification and could serve as a supplementary typing system for paternity testing.Supplemental data for this article is available online at https://doi.org/10.1080/20961790.2021.1945723 .
研究领域:
法医学
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群体遗传学
·
人类学
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产品关联
DOI
PubMed
CHEMICO-BIOLOGICAL INTERACTIONS
·
2024
·
IF 4.7
Yingying Hu,Zhize Ye,Hualu Wu,Xiaohai Chen,Hailun Xia,Jian-ping Cai,Guo-xin Hu,Ren-ai Xu
Clothianidin , classified as a second-generation neonicotinoid , has achieved extensive application due to its high efficacy against insect pests . This broad-spectrum usage has resulted in its frequent detection in environmental surveys. CYP2C19 and CYP3A4 are crucial for converting clothianidin to desmethyl-clothianidin (dm-clothianidin). The expression of these CYP450s can be significantly influenced by genetic polymorphisms . The objective of our research was to examine the catalytic effects of 27 CYP3A4 variants and 31 CYP2C19 variants on the metabolism of clothianidin within recombinant insect microsomes . These variants were assessed through a well-established incubation procedure. In addition, the concentration of its metabolite dm-clothianidin was quantified by employing an ultra performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS). Lastly, the kinetic parameters of these CYP3A4 and CYP2C19 variants were calculated by applying Michaelis-Menten kinetic analysis to fit the data. The observed changes in enzyme activity were related to the metabolic transformation of clothianidin to dm-clothianidin. In the CYP2C19 metabolic pathway, one variant (CYP2C19.23) showed no notable change in intrinsic clearance (CL int ), four variants (CYP2C19.29, .30, .31 and L16F) demonstrated a marked increase in CL int (110.86–183.46 %), and the remaining 25 variants exhibited a considerable decrease in CL int (26.38–89.79 %), with a maximum decrease of 73.62 % (CYP2C19.6). In the CYP3A4 metabolic pathway, 26 variants demonstrated significantly reduced CL int (10.54–52.52 %), with a maximum decrease of 89.46 % (CYP3A4.20). Our results suggested that most variants of CYP3A4 and CYP2C19 significantly altered the enzymatic activities associated with clothianidin metabolism to various degrees. This study provides new insights into assessing the metabolic behavior of pesticides and delivers crucial data that can guide clinical detoxification strategies.
研究领域:
毒理学
·
药理学
·
环境科学
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产品关联
DOI
PubMed
高影响因子
MACROMOLECULES
·
2024
·
IF 5.1
Jianfei Xia,Lingling Ni,Chang Zeng,Bao Wang,Rui Zhang,Chenxuan Sun,Jian Song,Junfeng Liu,Chengtao Yu,Ying Zheng,Pengju Pan
Terephthalic polyesters are important engineering plastics and can crystallize into multiple crystal phases, including the mesophase in processing. However, the formation process and structural characteristics for the unique long-range ordered mesophase of terephthalic polyesters are still not well understood. Herein, we investigated the crystal polymorphism, crystallization kinetics, phase transition, and mechanical properties of a medium-chain terephthalic polyester, poly(hexamethylene terephthalate) (PHT). A new long-range ordered mesophase (named as the δ phase) is discovered for PHT during quiescent melt crystallization at a low crystallization temperature (Tc = 10–30 °C). However, the α and β crystal phases are crystallized at a medium (40–80 °C) and high (90–130 °C) Tc, respectively. The mesomorphic δ phase has a long-range order with a layered structure and inclined chain packing, which shows faster chain relaxation and smaller lamellar thickness than the α and β phases. The mesomorphic δ phase is metastable and converts into the stable β phase upon heating or high-temperature annealing. Mechanical properties of PHT can be well tuned by crystal polymorphs. The mesomorphic δ phase of PHT has good transparency and ductility, while the α and β phases possess a higher yield strength and modulus. This work provides an in-depth understanding of the mesophase formation and complex crystal polymorphism of terephthalic polyesters.
研究领域:
材料科学
·
高分子化学
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产品关联
DOI
高影响因子
Cell Host & Microbe
·
2025
·
IF 18.7
Jing Yu,Yuxuan Liang,Qingrong Zhang,Hui Ding,Minghao Xie,Jingjing Zhang,Wenyan Hu,Sihua Xu,Yiyuan Xiao,Sha Xu,Rong Na,Baixing Wu,Jiaming Zhou,Haitao Chen
Intratumoral microbiota plays a crucial role in cancer progression. However, the relationship between host genetics and intratumoral microbiota, as well as their interaction in colorectal cancer (CRC) progression, remains unclear. With 748 Chinese CRC patients enrolled from three cohorts, we find that the single nucleotide polymorphism (SNP) rs2355016, located in the intron of ATP-sensitive inward rectifier potassium channel 11 ( KCNJ11 ), is significantly associated with the abundance of Fusobacterium . Compared with the rs2355016 GG genotype, patients carrying the A allele exhibit downregulation of KCNJ11 and enrichment of Fusobacterium , which corresponds to accelerated proliferation and progression. Low expression of KCNJ11 can increase the level of galactose-N-acetyl-d-galactosamine (Gal-GalNAc) on the surface of CRC cells, thereby facilitating the binding of the Fap2 protein from F. nucleatum to Gal-GalNAc. This further enhances the adhesion and invasion of F. nucleatum and promotes CRC growth. Our study explores the interaction between intratumoral microbiota and SNPs in CRC patients, which will enhance our understanding of CRC proliferation.
研究领域:
医学
·
遗传学
·
微生物学
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产品关联
DOI
PubMed
高影响因子
Plant Genome
·
2016
·Vol. 9
·期 2
·plantgenome2015
·
IF 3.509
Lise L. Mahoney,Daniel J. Sargent,F. Abebe-Akele,Dave J. Wood,Judson A. Ward,Nahla V. Bassil,James F. Hancock,Kevin M. Folta,Thomas M. Davis
Fragaria iinumae Makino is recognized as an ancestor of the octoploid strawberry species, which includes the cultivated strawberry, Fragaria × ananassa Duchesne ex Rozier. Here we report the construction of the first high-density linkage map for F. iinumae . The F. iinumae linkage map (Fii map) is based on two high-throughput techniques of single nucleotide polymorphism (SNP) genotyping: the IStraw90 Array (hereafter “Array”), and genotyping by sequencing (GBS). The F 2 generation mapping population was derived by selfing F. iinumae hybrid F1D, the product of a cross between two divergent F. iinumae accessions collected from Hokkaido, Japan. The Fii map consists of seven linkage groups (LGs) and has an overall length of 451.7 cM as defined by 496 loci populated by 4173 markers: 3280 from the Array and 893 from GBS. Comparisons with two versions of the Fragaria vesca ssp. vesca L. ‘Hawaii 4’ pseudo-chromosome (PC) assemblies reveal substantial conservation of synteny and colinearity, yet identified differences that point to possible genomic divergences between F. iinumae and F. vesca , and/or to F. vesca genomic assembly errors. The Fii map provides a basis for anchoring a F. iinumae genome assembly as a prerequisite for constructing a second diploid reference genome for Fragaria .
研究领域:
植物学
·
遗传学
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DOI
高影响因子
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
·
2019
·
IF 2.983
Qingqing Yang,Jing Sun,Chuan Li,Haizhi Zhang,Weiren Xu,Changxiao Liu,Xuemin Zheng
Specific study about the effect of cytochrome P450 2D6 (CYP2D6) polymorphisms on the metabolism of clinic drugs is of great significance for drug safety investigation. Here, the interaction between CYP2D6 variants (*1, *2, *10, *39) and metoprolol (MET) was intensively researched in vitro from the aspect of drug-enzyme kinetic study. To obtain quantitative data, α -hydroxymetoprolol (main metabolite of MET) was selected as an ideal analyte and an LC–MS/MS method was adopted for sample determination. Firstly, by selecting suitable internal standard and optimizing separation condition, the LC–MS/MS method was established and validated. Then, the drug-enzyme incubation system was optimized by two parameters: incubation time and amount of enzyme. Lastly, the interaction between CYP2D6 allelic variants and MET was characterized by K m , V max and CL int . As a result, four CYP2D6 enzymes displayed diverse K m or V max towards MET and the values of CL int showed a wide range from 8.91 to 100%. Relative to CYP2D6*1 (CL int *1 = 100%), CYP2D6*2 demonstrated the second high catalytic activity (CL int *2/*1 = 74.87%) while CYP2D6*39 (CL int *39/*1 = 29.65%) and CYP2D6*10 (CL int *10/*1 = 8.91%) showed minimal catalytic activity. This comprehensive in vitro data suggested the prominent influence of CYP2D6 polymorphisms on the metabolism of MET, which could offer valuable information for personalized administration of MET in clinic.
研究领域:
药理学
·
临床医学
·
生物化学
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产品关联
DOI
PubMed
高影响因子
Biosensors-Basel
·
2024
·Vol. 14
·期 11
·521
·
IF 4.9
Linmin Zhong,Huiping Chen,Shuang Cao,Shanwen Hu
Single nucleotide polymorphisms (SNPs) present significant challenges in microbial detection and treatment, further raising the demands on sequencing technologies. In response to these challenges, we have developed a novel barcode-based approach for highly sensitive single nucleotide recognition. This method leverages a dual-head folded complementary template probe in conjunction with DNA ligase to specifically identify the target base. Upon recognition, the system triggers rolling circle amplification (RCA) followed by the self-assembly of CdSe quantum dots onto polystyrene microspheres, enabling a single-particle fluorescence readout. This approach allows for precise base identification at individual loci, which are then analyzed using a bio-barcode array to screen for base changes across multiple sites. This method was applied to sequence a drug-resistant mutation site inHelicobacter pylori(H. pylori), demonstrating excellent accuracy and stability. Offering high precision, high sensitivity, and single nucleotide resolution, this approach shows great promise as a next-generation sequencing method.
研究领域:
分子生物学
·
医学检测
·
纳米技术
·
基因组学
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产品关联
DOI
PubMed
高影响因子
PHARMAZIE
·
2014
·Vol. 69
·期 12
·898-903
·
IF 1.003
Xia Meng-Ming,Wang Li,Pan Pei-Pei,Wang Hai-Yun,Chen Meng-Chun,Chen Yi,Dai Da-Peng,Cai Jian-Ping,Hu Guo-Xin
CYP2C9 is one of four known members of the human cytochrome P450 CYP2C superfamily, with at least 57 CYP2C9 alleles being previously identified. Genetic polymorphisms of CYP2C9 significantly influence the efficacy and safety of some drugs, which might cause adverse effects and therapeutic
failure. The purpose of the present study was to clarify the role of 36 CYP2C9 alleles, 21 novel alleles (*36-*56) found in the Chinese population, in the oxidative metabolism of diclofenac in vitro. Insect microsomes expressing the 36 human CYP2C9 alleles were incubated with 2-100
μM diclofenac for 30 min at 37°C and terminated by the addition of 30 μL 0.1 M HCl. Diclofenac and 4'-hydroxyl (OH)-diclofenac, the major diclofenac metabolite, were analyzed by high-performance liquid chromatography (HPLC). Compared with wild-type CYP2C9*1, most variants
showed significantly altered values in Vmax, Km and intrinsic clearance (Vmax/Km). Only one variant exhibited markedly increased intrinsic clearance value, whereas 31 variants exhibited significantly decreased values. Thus, this study demonstrated
that more attention should be given to subjects carrying these CYP2C9 alleles when administering diclofena.
研究领域:
药理学
·
遗传学
✓ 已验证
产品关联
DOI
高影响因子
Cell Genomics
·
2024
·
IF 11.1
Sijia Zhang,Qiao Song,Peng Zhang,Xiaona Wang,Rong Guo,Yanyan Li,Shuai Liu,Xiaoyu Yan,Jingjing Zhang,Yiwei Niu,Yirong Shi,Tingrui Song,Tao Xu,Shunmin He
Variable number tandem repeat (VNTR) is a pervasive and highly mutable genetic feature that varies in both length and repeat sequence. Despite the well-studied copy-number variants, the functional impacts of repeat motif polymorphisms remain unknown. Here, we present the largest genome-wide VNTR polymorphism map to date, with over 2.5 million VNTR length polymorphisms (VNTR-LPs) and over 11 million VNTR motif polymorphisms (VNTR-MPs) detected in 8,222 high-coverage genomes. Leveraging the large-scale NyuWa cohort, we identified 2,982,456 (31.8%) NyuWa-specific VNTR-MPs, of which 95.3% were rare. Moreover, we found 1,937 out of 38,685 VNTRs that were associated with gene expression through VNTR-MPs in lymphoblastoid cell lines. Specifically, we clarified that the expansion of a likely causal motif could upregulate gene expression by improving the binding concentration of PU.1. We also explored the potential impacts of VNTR polymorphisms on phenotypic differentiation and disease susceptibility. This study expands our knowledge of VNTR-MPs and their functional implications.
研究领域:
基因组学
·
分子生物学
·
人类遗传学
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产品关联
DOI
PubMed
高影响因子
Analytical Methods
·
2025
·
IF 2.6
Chen Lu,Jiayue Chen,Shengsheng Zhang,Yaru Tian,Xinyu Ying,Dan Zhang,Zhidan Luo,Xinxin Si,Ming Li
Two single nucleotide polymorphisms (SNPs) in the human SLCO1B1 gene, c.388A>G (rs2306283) and c.521T>C (rs4149056), are independent determinants of the efficacy and side effects of statin drugs. Multinational clinical guidelines recommend testing for SLCO1B1 genotypes before the initial use of statins. Current SLCO1B1 SNP identification methods, primarily based on quantitative fluorescence PCR, rely on expensive equipment, are time-consuming, and require cold-chain storage for reagents, making them unsuitable for use in resource-limited healthcare settings. In this study, we developed a CRISPR/Cas12b-based amplification-free genotyping technique for SLCO1B1 SNPs. Within 30 minutes of the isothermal reaction, genotyping of the c.388A>G and c.521T>C SNPs in the SLCO1B1 gene can be observed by the naked eyes under blue light. Additionally, maltodextrin was identified as an effective vitrification stabilizer for the CRISPR/Cas12b premix. A low-cost vitrification process was optimized to prepare a glass like solid reagent via room-temperature vacuum drying. The vitrified CRISPR/Cas12b reagent retained approximately 88% of its activity after 30 days of storage at 37 °C, eliminating the need for cold-chain storage and allowing for long-term preservation at room temperature. This vitrified CRISPR/Cas12b based rapid SNP detection technique is especially suitable for genotyping drug metabolism genes in primary healthcare settings, providing effective guidance for precision medicine in clinical practice.
研究领域:
分子生物学
·
医学遗传学
·
精准医疗
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产品关联
DOI
PubMed
高影响因子
ACS Omega
·
2018
·
IF 0
Wanxing Xu,Shu Xing,Xiaojun Xu,Mengjia Xu,Pan Fu,Tingting Gao,Chao Zhao
With the help of peptide nucleic acid (PNA) and single-stranded (ss) DNA-specific nucleases, a simple, rapid, and label-free nanosensor is demonstrated for the sensitive and accurate detection of single-nucleotide polymorphisms (SNPs) in a homogeneous solution based on the light scattering (LS) of carbon nanotubes. PNAs are non-natural analogues of DNA with extraordinary stability toward enzymatic degradation, and DNAs in the fully matched DNA/PNA duplexes can be effectively protected from ssDNA-specific nucleases, whereas the DNAs in DNA/PNA duplexes involving a mismatch are cleaved into small fragments. This difference could be easily monitored by measuring the LS signal of single-walled carbon nanotubes (SWNTs) for the different binding affinities of SWNTs to ssPNA and PNA/DNA duplexes that can be used for the detection of SNPs. As a proof-of-principle analyte, the SNPs in the human tumor suppressor gene TP53 have been successfully genotyped by this method. The assay does not involve any chemical modification of probes, which is simple and universal. Moreover, the LS technique and the use of a sequence-specific PNA probe impart high sensitivity and selectivity. In principle, this assay can be used to detect any kind of gene mutations by simply changing the PNA sequences of the specific probe.
研究领域:
生物化学
·
分子生物学
·
纳米技术
✓ 已验证
DOI
MACROMOLECULES
·
2025
·
IF 5.2
Mengru Ding,Lingling Ni,Ying Zheng,Bao Wang,Chengtao Yu,Guorong Shan,Yongzhong Bao,Junfeng Liu,Pengju Pan
Long-spaced aliphatic polyesters are typical sustainable polyethylene (PE)-like polymers. However, the presence of a low amount of ester groups can exert a profound effect on the crystalline structure of such PE-like polymers. Herein, we synthesized a series of long-spaced aliphatic polyesters bearing two proximate ester groups from ethylene glycol (EG) and n-methylene diacids (n = 9–18) and investigated their polymorphic crystallization and phase transitions. We find that the EG-based polyesters exhibit unique crystal polymorphism and phase transition behaviors. They can form a metastable hexagonal phase (form II) with nontilted, extended chain conformations at low temperatures or during rapid cooling but adopt the thermally stable orthorhombic phase (form I) with tilted chain packing at high temperatures or under slow cooling. Form I demonstrates a more densely packed chain structure and displays distinct mechanical properties compared to form II. The metastable hexagonal phase can transform into an orthorhombic phase during heating through a melt-recrystallization mechanism. This study advances the current understanding of the multiphase crystallization of PE-like long-spaced polyesters.
研究领域:
材料科学
·
高分子化学
✓ 已验证
产品关联
DOI
高影响因子
危险品化学品经营许可证（带存储）