Polymorphism, Restriction Fragment Length

多态性,限制片段长度
  • 文章类型: Systematic Review
    弓形虫病是一种由弓形虫引起的全球流行的人畜共患疾病。本研究旨在总结基于GRA6基因标记在世界各地不同宿主中对弓形虫菌株进行基因分型的可用数据。我们使用五个国际数据库(PubMed,Scopus,科学直接,WebofScience,和谷歌学者)从成立到2021年12月。我们确定了32篇有资格纳入本系统综述的论文。大多数研究(50%)是在伊朗(n=16)进行的,以基于GRA6基因鉴定弓形虫基因型。其他有研究报告的国家包括中国,Japan,瑞典,和意大利(每个n=2)。在从不同宿主收集的3434个样本中,大多数研究(n=11)集中在人类样本(34.4%),其次是绵羊(n=7),猪(n=4),山羊(n=3)和土壤和牛(n=2)。使用各种分子方法,如常规PCR,巢式PCR,实时PCR,微卫星分析,和限制性片段长度多态性(RFLP),我们在3,434份样本中发现了805份DNA阳性结果.其中,285(35.40%),207(25.71%),182(22.60%),65(8.07%),18人(2.23%)感染了I型,II,III,混合I,II,III,和混合II,III,分别。我们的数据表明GRA6基因标记具有足够的多态性来检测各种宿主中的三种类型的弓形虫基因型。确定特定的基因型在开发新的治疗策略方面可能是有价值的,疫苗接种,诊断,control,和预防弓形虫感染。
    Toxoplasmosis is a zoonotic disease with a worldwide prevalence that is caused by Toxoplasma gondii. This study aimed to summarize available data on genotyping T. gondii strains based on the GRA6 gene marker in different hosts around the world. We conducted a comprehensive literature search using five international databases (PubMed, Scopus, Science Direct, Web of Science, and Google Scholar) from inception until December 2021. We identified 32 papers eligible for inclusion in this systematic review. The majority of studies (50%) were carried out in Iran (n = 16) to identify T. gondii genotypes based on the GRA6 gene. Other countries with reported studies include China, Japan, Sweden, and Italy (n = 2 each). Out of 3,434 samples collected from various hosts, most studies (n = 11) focused on human samples (34.4%), followed by ovine (n = 7), pig (n = 4), goat (n = 3) and soil and cattle (n = 2).Using various molecular methods such as conventional PCR, nested-PCR, real-time PCR, microsatellite analysis, and Restriction Fragment Length Polymorphism (RFLP), we found DNA positive results in 805 out of 3,434 samples. Of these, 285 (35.40%), 207 (25.71%), 182 (22.60%), 65 (8.07%), and 18 (2.23%) were infected with types I, II, III, mix I, II, III, and mix II, III, respectively. Our data demonstrate that the GRA6 gene marker has sufficient polymorphism to detect three types of T. gondii genotypes in various hosts. Identifying the specific genotype could be valuable in developing new strategies for treatment, vaccination, diagnosis, control, and prevention of T. gondii infection.
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  • 文章类型: Journal Article
    背景:已经进行了几项研究来研究维生素D受体(VDR)基因多态性与急性胰腺炎之间的关联,但结果尚无定论。我们进行了这项荟萃分析,以精确估计BsmI(rs1544410)、ApaI(rs7975232),TaqI(RS731236),和FokI(rs2228570)多态性与急性胰腺炎。
    方法:通过搜索WebofScience检索适当的研究,PubMed,Scopus,和谷歌学者数据库,直到2021年1月31日。由两名审稿人独立进行数据提取和文献质量评价。计算赔率比和95%置信区间以评估关联的强度。所有数据用Stata16.0分析。
    结果:此荟萃分析的结果将提交给同行评审的期刊发表。
    结论:本荟萃分析将总结BsmI,ApaI,TaqI,和FokI多态性与急性胰腺炎的风险。
    背景:本研究不需要伦理批准。系统评价将发表在同行评审的期刊上,在会议上介绍,并在社交媒体平台上分享。
    未经批准:DOI10.17605/OSF。IO/83W7R。
    BACKGROUND: Several studies have been performed to investigate the association between vitamin D receptor (VDR) gene polymorphism and acute pancreatitis, but the results are inconclusive. We conducted this meta-analysis for a precise estimation of the association between BsmI (rs1544410), ApaI (rs7975232), TaqI (rs731236), and FokI (rs2228570) polymorphisms and acute pancreatitis.
    METHODS: Appropriate studies were retrieved by searching Web of Science, PubMed, Scopus, and Google scholar databases, until January 31, 2021. Two reviewers independently conducted data extraction and literature quality evaluation. Odds ratios and 95% confidence intervals were calculated to evaluate the strength of the association.All of the data were analyzed with Stata 16.0.
    RESULTS: The results of this meta-analysis will be submitted to a peer-reviewed journal for publication.
    CONCLUSIONS: This meta-analysis will summarize the association between BsmI, ApaI, TaqI, and FokI polymorphisms and the risk of acute pancreatitis.
    BACKGROUND: Ethical approval was not required for this study. The systematic review will be published in a peer-reviewed journal, presented at conferences, and shared on social media platforms.
    UNASSIGNED: DOI 10.17605/OSF.IO/83W7R.
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  • 文章类型: Journal Article
    弓形虫病是由专性细胞内原生动物寄生虫引起的人类最常见的食源性感染之一,弓形虫.啮齿动物,作为中间和水库宿主,在弓形虫病的流行病学中起关键作用;因为它们是Felidae家族成员的主要感染源,并建立了寄生虫的生命周期。因此,鼠类感染弓形虫的分离株可能是感染环境的主要基因型,人类和动物。我们的综述旨在介绍这些哺乳动物中弓形虫的种群结构。要访问相关研究,从1990年到2019年,系统地搜索了六个英语数据库。最后,分析了3,395个啮齿动物样品的基因分型数据,并从样品中分离出118个分离株。本研究的结果表明,非典型基因型占主导地位,占总分离株的65.2%(118个中的77个)。II型克隆,III和我的频率较低,分别。仅从亚洲鉴定了I型克隆分离株。对世界各地啮齿动物中流行的基因型的检查表明,ToxoDB#1或#3(II型)是最常见的,其次是ToxoDB#9和#2。总的来说,我们的数据显示,与来自欧洲的分离株相比,在啮齿动物中具有循环克隆菌株的弓形虫的遗传多样性较低,北美和非洲,而具有高遗传多样性的非克隆寄生虫在南美和亚洲占主导地位。
    Toxoplasmosis is one of the most frequent food-borne infections in humans caused by an obligate intracellular protozoan parasite, Toxoplasma gondii. Rodents, as intermediate and reservoir hosts, play key role in the epidemiology of toxoplasmosis; because they are the main source of infection for the Felidae family members and establish the parasite life cycle. Hence, the infectious isolates of T. gondii in rodents may be the main genotypes infecting the environment, humans and animals. Our review aimed to present the population structure of T. gondii in these mammals. To access the relevant studies, six English language databases were systematically searched from 1990 to 2019. Finally, 3,395 samples of rodents were analysed for the genotyping data and 118 isolates were separated from the samples. The results of the present study showed that atypical genotypes were dominant with a frequency of 65.2% of the total isolates (77 out of 118). Clonal Types II, III and I had less frequency, respectively. Type I clonal isolates were identified only from Asia. The examination of genotypes circulating in rodents around the world revealed that ToxoDB #1 or #3 (Type II) were the most common, followed by ToxoDB #9 and #2, respectively. Overall, our data showed low genetic diversity of T. gondii with circulating clonal strains in rodents compare to the isolates from Europe, North America and Africa, while non-clonal parasites with high genetic diversity were dominant in South America and Asia.
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  • 文章类型: Journal Article
    分子分型可以帮助揭示流行病学情景并改善疾病控制策略。通过对1996-2019年发表的56项研究进行基因分型,对巴西的结核分枝杆菌传播进行了文献综述。1,613株分枝杆菌散布的重复单元-可变串联重复序列(MIRU-VNTR)的聚集率为:73%,基于12、15和24个基因座的33%和28%,分别;而对于RFLP-IS6110是:里约热内卢监狱人口中的84%,南里奥格兰德州的多药耐药菌株中有69%,在圣保罗的一般人口中占56.2%。这些发现可以改善结核病(TB)监测,并为建立分枝杆菌基因组数据库奠定坚实的基础。
    Molecular-typing can help in unraveling epidemiological scenarios and improvement for disease control strategies. A literature review of Mycobacterium tuberculosis transmission in Brazil through genotyping on 56 studies published from 1996-2019 was performed. The clustering rate for mycobacterial interspersed repetitive units - variable tandem repeats (MIRU-VNTR) of 1,613 isolates were: 73%, 33% and 28% based on 12, 15 and 24-loci, respectively; while for RFLP-IS6110 were: 84% among prison population in Rio de Janeiro, 69% among multidrug-resistant isolates in Rio Grande do Sul, and 56.2% in general population in São Paulo. These findings could improve tuberculosis (TB) surveillance and set up a solid basis to build a database of Mycobacterium genomes.
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  • 文章类型: Journal Article
    哺乳动物物种鉴定是法医学的重要问题之一。确定在犯罪现场发现的非人类生物材料的来源可以通过缩小嫌疑人的范围来增加识别真正罪魁祸首的可能性。尽管已经开发了许多基于线粒体DNA(mtDNA)的技术,从含有来自多个物种的DNA混合物的降解样品中经济有效地鉴定物种以及标准化哺乳动物物种鉴定程序仍然存在挑战。这篇综述评估了基于mtDNA的技术的可靠性和多功能性,以揭示建立标准分析方法的障碍,特别关注DNA混合物。当样品含有来自多个物种的DNA混合物时,测序分析结果的解释是困难的。尽管使用下一代测序(NGS)技术的DNA元编码可以克服DNA混合问题,DNA元编码不适合当地法医实验室常规进行的小规模分析类型,主要是因为它既昂贵又耗时。相比之下,荧光多重PCR分析能够从次优样品中进行经济有效的同时物种鉴定,尽管与测序技术相比,目前可识别物种的数量有限。本综述中介绍的当前技术的优点和局限性表明,多重PCR分析对于法医案例分析中的哺乳动物物种鉴定将继续很重要。多重PCR分析的进一步发展,能够鉴定更多的物种,将成为法医实验室标准化工作的关键步骤。
    Mammalian species identification is one of the important issues in forensic science. Determining the origins of non-human biological material found at crime scenes can increase the possibility of identifying the true culprit by narrowing down the range of suspects. Although many techniques based on mitochondrial DNA (mtDNA) have been developed, challenges remain to cost-effectively identify species from degraded samples containing a mixture of DNA from multiple species and to standardize procedures for mammalian species identification. This review evaluates the reliability and versatility of mtDNA-based techniques to reveal obstacles to the establishment of standard analytical methods, with a particular focus on DNA mixtures. When samples contain a mixture of DNA from multiple species, the interpretation of sequencing analysis results is difficult. Although DNA metabarcoding using next-generation sequencing (NGS) technologies can overcome the DNA mixture problem, DNA metabarcoding is not suitable for the type of small-scale analysis routinely performed by local forensic laboratories, primarily because it is costly and time-consuming. By contrast, fluorescent multiplex PCR analysis enables cost-effective and simultaneous species identification from suboptimal samples, although the number of identifiable species is currently limited in comparison with sequencing techniques. The advantages and limitations of current techniques presented in this review indicate that multiplex PCR analysis will continue to be important for mammalian species identification in forensic casework analysis. Further developments in multiplex PCR analysis that enable the identification of an increased number of species will play a key step for standardization efforts among forensic laboratories.
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  • 文章类型: Journal Article
    The determination of the post-mortal interval (PMI) is an extremely discussed topic in the literature and of deep forensic interest, for which various types of methods have been proposed. The aim of the manuscript is to provide a review of the studies on the post-mortem DNA degradation used for estimating PMI. This review has been performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and the PRISMA Guidelines. Several analytical techniques have been proposed to analyse the post-mortem DNA degradation in order to use it to estimate the PMI. Studies focused mainly on animal models and on particular tissues. The results have been mixed: while on the one hand literature data in this field have confirmed that in the post-mortem several degradation processes involve nucleic acids, on the other hand some fundamental aspects are still little explored: the influence of ante and post-mortem factors on DNA degradation, the feasibility and applicability of a multiparametric mathematical model that takes into account DNA degradation and the definition of one or more target organs in order to standardize the results on human cases under standard conditions.
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  • 文章类型: Journal Article
    BACKGROUND: The burden of drug resistant tuberculosis in Africa is largely driven by the emergence and spread of multidrug resistant (MDR) and extensively drug resistant (XDR) Mycobacterium tuberculosis strains. MDR-TB is defined as resistance to isoniazid and rifampicin, while XDR-TB is defined as MDR-TB with added resistance to any of the second line injectable drugs and any fluoroquinolone. The highest burden of drug resistant TB is seen in countries further experiencing an HIV epidemic. The molecular mechanisms of drug resistance as well as the evolution of drug resistant TB strains have been widely studied using various genotyping tools. The study aimed to analyse the drug resistant lineages in circulation and transmission dynamics of these lineages in Africa by describing outbreaks, nosocomial transmission and migration. Viewed as a whole, this can give a better insight into the transmission dynamics of drug resistant TB in Africa.
    METHODS: A systematic review was performed on peer reviewed original research extracted from PubMed reporting on the lineages associated with drug resistant TB from African countries, and their association with outbreaks, nosocomial transmission and migration. The search terms \"Tuberculosis AND drug resistance AND Africa AND (spoligotyping OR molecular epidemiology OR IS6110 OR MIRU OR DNA fingerprinting OR RFLP OR VNTR OR WGS)\" were used to identify relevant articles reporting the molecular epidemiology of drug resistant TB in Africa.
    RESULTS: Diverse genotypes are associated with drug resistant TB in Africa, with variations in strain predominance within the continent. Lineage 4 predominates across Africa demonstrating the ability of \"modern strains\" to adapt and spread easily. Most studies under review reported primary drug resistance as the predominant type of transmission. Drug resistant TB strains are associated with community and nosocomial outbreaks involving MDR- and XDR-TB strains. The under-use of molecular epidemiological tools is of concern, resulting in gaps in knowledge of the transmission dynamics of drug resistant TB on the continent.
    CONCLUSIONS: Genetic diversity of M. tuberculosis strains has been demonstrated across Africa implying that diverse genotypes are driving the epidemiology of drug resistant TB across the continent.
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  • 文章类型: Journal Article
    A variety of methods have been used to examine genetic differences in P. ginseng and P. quinquefolius. They have shown genetic differences within populations of P. ginseng (within and between elite cultivars, landraces and wild accessions), within populations of P. quinquefolius (within and between wild and cultivated accessions) and between P. ginseng and P. quinquefolius as well as other Panax species. Some examples of their applications have been to show that some elite cultivars are not uniform, there are possible founder effects in certain populations, there has been the spread of cultivated types into wild populations, relative diversity differs between different populations and identification of the source and purity of commercial samples. More work in the use of molecular markers for ginseng are needed, however, particularly the use of Next Generation Sequencing. Potential applications are the use of sequence analysis for genetic selection, breeding to develop new cultivars and providing traceability from field to consumer. Research on molecular markers in ginseng has lagged compared to other crops probably because of less of an emphasis on breeding for cultivar development and relatively small areas of production. The many potential benefits for ginseng production have yet to be realized.
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  • 文章类型: Journal Article
    The pathogenesis of Graves\' disease (GD) and orbitopathy (GO) is not completely elucidated. On the other hand, vitamin D receptor (VDR) gene polymorphisms have been associated with vulnerability to a plethora of chronic autoimmune diseases. The primary aim of this study was to synthesize evidence on the association between VDR gene polymorphisms and GD. Secondary aim was to investigate their association with GO.
    A comprehensive search was conducted in PubMed, CENTRAL and Scopus, up to December 8, 2018. Data were expressed as odds ratio (OR) with 95% confidence intervals (CI). Heterogeneity was quantified with I2 index.
    Ten studies were included in the qualitative and quantitative analysis. TT subtype of TaqI polymorphism was associated with an increased risk of GD compared with Tt and tt polymorphisms (OR: 1.42; 95% CI, 1.05-1.94, p = 0.025), whereas tt was associated with a lower risk of GD, compared with TT and Tt polymorphisms (OR: 0.79; 95% CI, 0.62-0.99, p = 0.043). No association was found for ApaI, BsmI, and FokI polymorphisms. The bb subtype of BsmI polymorphism was associated with a lower risk in Asian, but with a higher GD risk in Caucasian populations, compared with BB/Bb subtypes. No eligible study was found regarding the association between VDR gene polymorphisms and the risk of GO.
    The TT subtype of the TaqI polymorphism was associated with a higher susceptibility for GD compared with Tt and tt. Regarding BsmI, the bb subtype was associated with increased GD risk in Caucasians, whereas it is protective in Asians.
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  • 文章类型: Journal Article
    关于维生素D受体(VDR)基因多态性与绝经后骨质疏松症(PMOP)易感性和骨密度(BMD)之间的关系的结果是矛盾的。该研究的目的是确定更多符合条件的研究,这些研究计算了具有95%CI的合并OR和WMD,以评估它们的关联。总的来说,VDRApaI之间存在显著相关性,VDRFokI和PMOP易感性。亚组分析表明,VDRApaI多态性显着降低了高加索绝经后妇女的骨质疏松症风险。在亚洲人口中,VDRBsmI和VDRFokI与PMOP风险增加相关。关于VDR多态性与BMD的关系,携带ApaIaa基因型的高加索PMOP女性在股骨颈有高BMD的风险,在具有FokIFf基因型的高加索PMOP女性中观察到低股骨颈BMD。与具有GG基因型的PMOP女性相比,具有Cdx2GA基因型的PMOP女性在总体和高加索人群中的腰椎BMD较低。不同的VDR基因多态性对PMOP风险和BMD有不同的影响。
    Results on the relationships between vitamin D receptor (VDR) gene polymorphisms and postmenopausal osteoporosis (PMOP) susceptibility and bone mineral density (BMD) are conflicting. The aim of the study is to identify more eligible studies that calculated pooled OR and WMD with 95% CI to assess their associations. Overall, there were significant correlations between VDR ApaI, VDR FokI and PMOP susceptibility. Subgroup analysis showed that VDR ApaI polymorphism significantly decreased the osteoporosis risk in Caucasian postmenopausal women. In Asian populations, VDR BsmI and VDR FokI were associated with an increased risk of PMOP. As to the associations between VDR polymorphisms and BMD, Caucasian PMOP women carrying the ApaI aa genotype were at risk of high BMD in femoral neck, and low femoral neck BMD was observed in Caucasian PMOP women with FokI Ff genotype. PMOP women with the Cdx2 GA genotype had a lower lumbar spine BMD in overall and Caucasian populations compared with PMOP women with GG genotype. Different VDR gene polymorphisms have different impacts on PMOP risk and BMD.
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