JCLA:基于高分辨熔融分析的三种P‐选择素基因多态性基因分型快速方法的开发与验证

2019-07-14 Gladiator MedSci原创

高分辨熔融(HRM)分析是一种较新的、可靠的、敏感的基因分型技术,因为其可以帮助可以节省大量的时间和成本。P‐选择素是一种粘附分子,在炎症反应中白细胞与受刺激血小板和内皮细胞粘附的初始阶段起作用。本文描述了P‐选择素基因(SELP)中影响蛋白序列的多种多态性。本研究的目的是设计、优化并验证一种简单、快速的基于内部HRM的NM_003005.3:c 992 g > A (c.992G >

高分辨熔融(HRM)分析是一种较新的、可靠的、敏感的基因分型技术,因为其可以帮助可以节省大量的时间和成本。P‐选择素是一种粘附分子,在炎症反应中白细胞与受刺激血小板和内皮细胞粘附的初始阶段起作用。本文描述了P‐选择素基因(SELP)中影响蛋白序列的多种多态性。本研究的目的是设计、优化并验证一种简单、快速的基于内部HRMNM_003005.3:c 992 g > A (c.992G >), NM_003005.3: c1918G>T (c.1918G>T) NM_003005.3:c2266A>C (C .2266A>C) SELP多态性的基因分型方法。

采用聚合酶链反应(PCR)和序列特异性引物(SSP)对三种SELP多态性进行初步基因分型,将其作为测定分析灵敏度的参考方法。用文献报道为c2266A>C的引物进行PCRHRM检测。其余两个多态性的引物采用引物‐BLAST设计。采用三种不同基因型的样品进行精密度检测。每个多态性选择20个野生型、10个杂合型和10个纯合样本进行准确性、分析灵敏度和特异性检测。结果与可接受性标准符合率≥95%

C.1918 g > Tc.2266A>C的分析灵敏度外,所有验证参数的结果一致为100%,符合率为90%。两种方法的重复分析表明,PCRHRM在初始基因分型和正确基因分型上均存在错误,Sanger测序证实了这一点。

本研究证实对于C.992 g > A, c.1918 g > T, c.2266 C > SELP多态性基因分型,PCRHRM是一种精确、准确、特异的方法。

原始出处:

Andrea Ceri, Marina Pavic ,Development and validation of a rapid method for genotyping three Pselectin gene polymorphisms based on high resolution melting analysis

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    2019-08-28 lsndxfj
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    2019-07-16 xzw120
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    2019-07-16 1209e435m98(暂无昵称)

    学习了,谢谢分享

    0

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    2019-07-15 orangesking

    0

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基于遗传异质性,丙型肝炎病毒(HCV)被分为7个主要基因型和64个亚型。尽管序列存在一定的异质性,但是所有基因型在大开放阅读框架内共享相同的共线基因。这些基因之间的遗传相互关系在基因型之间是一致的。由于这一性质,其实并不需要对HCV基因组完整测序。 HCV基因型以及亚型分型对于抗病毒治疗至关重要,某些基因型还与肝硬化增加相关。

CCLM:比较两种丙型肝炎病毒基因分型的方法

丙型肝炎病毒(HCV)基因型可以作为治疗的预测指标。研究人员依次评估了两种核酸扩增试验(NAATs)和一种HCV基因型的血清学检测方法,包括Abbott RealTi me基因型II(RealTi me II),GeneMatrix限制性片段质量多态性(RFM)和Sysmex HISCL HCV Gr(HISCL Gr )。研究人员用三个检测方法检查了281个临床样本,使用HCV基因型性能亚组PH

CLIN CHEM:熔解率对小扩增微流体基因分型的影响

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Heart:哪些基因分型能识别出华法林出血风险增加的VTE患者?

2017年11月,发表在《Heart》上的一项随机、多国家、双盲、非劣效性试验,旨在调查是否遗传多态性可识别静脉血栓栓塞患者使用华法林后出血风险的增加。研究结果表明:CYP2C9和VKORC1基因分型能识别出华法林出血风险增加的患者。

JCO:基因分型确定化疗给药剂量

氟嘧啶类药物是重要的抗癌药物,被广泛地用于多种恶性实体瘤的辅助以及姑息治疗,比如胃肠道癌、乳腺癌以及头颈癌等等。此类药物有着较好的耐受性。只有大于5%-10%的患者在用药后会出现严重的,潜在的危及生命的毒性。对于这些严重毒性的治疗通常要求病人进行住院治疗。这会对病人的预后和生活质量带来巨大的影响,也会给病人带来巨大的经济负担。