DNA sequence analyses

DNA 序列分析
  • 文章类型: Journal Article
    吞噬体是一种媒介传播的人畜共患病原体,可以感染多种脊椎动物宿主,尤其是牛,绵羊,山羊,马,还有狗.基于分子的研究表明,该试剂具有很高的遗传多样性,并且密切相关的菌株在宿主中循环。在这项研究中,用PCR方法研究了来自Türkiye不同地理区域的618份绵羊血样中的吞噬菌及其相关菌株,RFLP,和DNA序列分析。在110份(17.79%)样品中检测到这些病原体的DNA。RFLP分析显示,所有阳性样品均感染了吞噬细胞样1,而未检测到吞噬细胞样2和吞噬细胞样2。对7个随机选择的阳性样品的16SrRNA基因的部分部分进行测序。这些分离株的系统发育分析表明,至少有两个类似吞噬细胞1的分离株在Türkiye和世界各地的宿主之间循环。在过去的几年中,基于分子的研究已经报道了与吞噬细胞相关的菌株,但是缺乏关于矢量能力的数据,流行病学,临床症状,以及这些病原体的遗传多样性。因此,仍然需要大规模的分子研究来获得关于上述主题的详细数据。
    Anaplasma phagocytophilum is a vector-borne zoonotic pathogen and can infect various vertebrate hosts, especially cattle, sheep, goats, horses, and dogs. Molecular-based studies have revealed that the agent has a high genetic diversity and closely related strains circulate in hosts. In this study, 618 sheep blood samples obtained from different geographic regions of Türkiye were researched for A.phagocytophilum and related strains with PCR, RFLP, and DNA sequence analyses. The DNA of these pathogens was detected in 110 (17.79%) samples. RFLP assay showed that all positive samples were infected with A.phagocytophilum-like 1, whereas A.phagocytophilum-like 2 and A.phagocytophilum were not detected. Partial parts of 16 S rRNA gene of seven randomly selected positive samples were sequenced. The phylogenetic analyses of these isolates revealed that at least two A.phagocytophilum-like 1 isolates circulate among hosts in Türkiye and around the world. A.phagocytophilum-related strains have been reported in molecular-based studies over the last few years, but there is a lack of data on the vector competence, epidemiology, clinical symptoms, and genetic diversity of these pathogens. Therefore, large-scale molecular studies are still needed to obtain detailed data on the above-mentioned topics.
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  • 文章类型: Journal Article
    SOLTI-1301AGATA研究旨在评估多机构分子筛查计划的可行性,以更好地表征晚期乳腺癌(ABC)的基因组景观,并促进患者获得匹配的靶向治疗在西班牙。
    在三个不同的实验室中使用具有三个不同基因面板的FFPE肿瘤样品对74个癌症相关基因进行DNA测序。多学科咨询委员会前瞻性地推荐潜在的靶向治疗。主要目的是确定将体细胞DNA改变与实验药物/药物类别相匹配的成功。
    2014年9月至2017年7月,纳入了来自10个机构的305名ABC患者。260例(85.3%)患者肿瘤测序成功。中位年龄为54岁(29-80岁);大多数肿瘤为激素受体阳性/HER2阴性(74%),其次是三阴性(14.5%)和HER2阳性(11.5%)。分析的97个(37%)肿瘤样品来自转移部位。在163例(62.7%)患者中发现体细胞突变,主要在PIK3CA(34%),TP53(22%),AKT1(5%),ESR1(3%),和ERBB2(3%)基因。在转移性样品与原发性样品中观察到AKT1突变的显着富集(9%与2%;p=0.01)。45%(n=116)成功筛查的患者推荐使用基因组驱动的癌症治疗。其中11%(n=13)最终收到了它。在这些患者中,46.2%的患者在匹配治疗后的PFS≥6个月。
    AGATA是在西班牙进行的第一个全国性的分子筛选计划,我们证明了在ABC管理中实施分子数据是可行的。虽然这些结果很有希望,只有11%的患者接受了基因组驱动的癌症治疗.
    UNASSIGNED: The SOLTI-1301 AGATA study aimed to assess the feasibility of a multi-institutional molecular screening program to better characterize the genomic landscape of advanced breast cancer (ABC) and to facilitate patient access to matched-targeted therapies in Spain.
    UNASSIGNED: DNA sequencing of 74 cancer-related genes was performed using FFPE tumor samples in three different laboratories with three different gene panels. A multidisciplinary advisory board prospectively recommended potential targeted treatments. The primary objective was to determine the success of matching somatic DNA alteration to an experimental drug/drug class.
    UNASSIGNED: Between September 2014 and July 2017, 305 patients with ABC from 10 institutions were enrolled. Tumor sequencing was successful in 260 (85.3%) patients. Median age was 54 (29-80); most tumors were hormone receptor-positive/HER2-negative (74%), followed by triple-negative (14.5%) and HER2-positive (11.5%). Ninety-seven (37%) tumor samples analyzed proceeded from metastatic sites. Somatic mutations were identified in 163 (62.7%) patients, mostly in PIK3CA (34%), TP53 (22%), AKT1 (5%), ESR1 (3%), and ERBB2 (3%) genes. Significant enrichment of AKT1 mutation was observed in metastatic versus primary samples (9% vs. 2%; p=0.01). Genome-driven cancer therapy was recommended in 45% (n=116) of successfully screened patients, 11% (n=13) of whom finally received it. Among these patients, 46.2% had a PFS of ≥6 months on matched therapy.
    UNASSIGNED: AGATA is the first nationwide molecular screening program carried out in Spain and we proved that implementing molecular data in the management of ABC is feasible. Although these results are promising, only 11% of the patients with genome-driven cancer therapy received it.
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  • 文章类型: Journal Article
    This data can serve as a reference for other next-generation sequencing (NGS) of the cerebrospinal fluid (CSF). In the related research article, entitled \"Next-Generation Sequencing of Cerebrospinal Fluid for the Diagnosis of Neurocysticercosis\", we reported NGS of the CSF might be an auxiliary method for neurocysticercosis (NCC) patients who have complicated manifestations and courses to receive early diagnosis and treatment. In this article, we retrieved the available data about the sequencing statistics of the CSF samples and the number of unique reads and genomic coverage aligning to microorganic sequences. The data were generated by the Illumina MiniSeq system for sequencing and computational subtraction of the human host sequences was performed. Finally, the remaining sequencing data were aligned to the Microbial Genome Databases. This data can serve as a reference for other NGS of the CSF.
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