服务流程 服务优势 自主产权捕获平台,实现探针订制、测序、信息分析一站式服务 捕获范围大,可捕获约200K到50M大小基因组 适用于多种类型样品,包括石蜡包埋,适用于不同的测序平台(Illumina, Ion Torrent,Pyrosequencing) 人、微生物、动物方向均可开发 DNA和RNA样本均适用 可单独提供捕获试剂盒及配套试剂服务 可回邮捕获好的目标区域片段(50Mb) 序列分析深度: 对于孟德尔疾病/罕见病:有效序列分析深度>200X; 对于肿瘤样本:有效序列分析深度>700-1000X; 其他物种:普遍>200X,并可灵活定制。项目周期:30个工作日——捕获试剂的设计及优化; 45个工作日——序列分析服务及数据分析。价格:个性化捕获订制30000元/项目,2500元/例样本截止2017年6月2日,使用Mygenostics试剂盒发表的英文文章已达100+篇,覆盖病毒、病原微生物、免疫组库、肿瘤、单基因遗传病、耳聋、遗传性血液病、遗传性眼病、神经肌肉病、心血管疾病、肾脏疾病、免疫疾病等众多领域,以下是部分文章:1. Zengchao Chen, Chaoting Zhang et al.T cell receptor β-chain repertoire analysis reveals intratumour heterogeneity of tumour infiltrating lymphocytes in oesophageal squamous cell carcinoma. J Pathol. 2016 Aug;239(4):450-8.2. Yu H, Artomov M, Brähler S et al. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.J Clin Invest. 2016 Apr 1;126(4):1603. 3. Jiang J, Tang W, An Y et al. Molecular and immunological characterization of DNA ligase IV deficiency.Clin Immunol. 2016 Feb;163:75-83.4. Ning C, Gao S, Deng B, Zheng H et al. Ancient mitochondrial genome reveals trace of prehistoric migration in the east Pamir by pastoralists. J Hum Genet. 2016 Feb;61(2):103-8.5. Shen Song, Na Yao, Min Yang et al. Exome sequencing reveals genetic differentiation due to high-altitude adaptation in the Tibetan cashmere goat (Capra hircus) .BMC Genomics. 2016 Feb 18;17:122. 6.Liu Y, Li X, Wang Q et al. Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.Brain Dev. 2016 Jan;38(1):61-7. 7.Sun Y, Chen X, Sun J et al. A novel inherited mutation in PRKAR1A abrogates preRNA splicing in a Carney complex family.Can J Cardiol. 2015 Nov;31(11):1393-401. 8. X.L Wang, C.J Li, Y. Xing, Y.H. Yang, J.P. Jia. Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene. J Inherit Metab Dis. 2015 Sep;38(5):855-61. 9. Guo J, Cai L et al. Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.Sci Rep. 2015 Aug 14;5:13115. 10. Yue D, Gao M, Zhu W et al. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.Neuromuscul Disord. 2015 Feb;25(2):172-6. 11. Xuxia Liu, Tengyong Jiang et al. Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Nextgeneration Sequencing.Sci Rep. 2015 Jun 19;5:11411. 12. Sun Y, Zhang Z, Cheng J et al. A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.J Hum Genet. 2015 Jun;60(6):299-304.13. Zi-Bing Jin, Xiu-Feng Huang et al. SLC7A14 linked to autosomal recessive retinitis pigmentosa.Nat Commun. 2014 Mar 27;5:3517.14. Dongyan Fan, Wei Zhu et al. Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G.A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss.PLoS One. 2014 Dec 4;9(12):e114136. 15. Lin F, Li D, Wang P, et al. Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2216-21.16. Wei Q, Zhu H, Qian X et al. Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.J Transl Med. 2014 Nov 12;12:311.17. Wang Y, Yang Y, Liu J et al. Whole dystrophin gene analysis by next‑generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.Mol Genet Genomics. 2014 Oct;289(5):1013-21. 18. Rui Gao,Yanxia Liu et al. Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. BMC Genet. 2014 Jan 29;15:13.19. Xing DJ, Zhang HX et al. Comprehensive molecular diagnosis of Bardet-Biedl Syndrome by high-throughput targeted exome sequencing.PLoS One. 2014 Mar 7;9(3):e90599.20. Wang Z, Cui F, Chen D et al. Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy..Muscle Nerve. 2013 Dec;48(6):979-83.
活动细则 活动时间:2016年12月1日~12月31日 活动期间,凡在迈基诺进行科研线粒体捕获测序>200例,均可享受500元/例 优惠! 注:本活动只适用于科研,活动最终解释权归迈基诺所有 迈基诺科研线粒体捕获测序优势——GenCap®专利技术 拥有GenCap®国际专利技术和Illumina测序平台,可为相关科研工作者量身设计捕获测序研究方案 线粒体测序方法对比 捕获测序 (探针捕获 + NGS测序) 100%全长覆盖;平均测序深度>5000X; 突变检测灵敏度可达0.5%;可有效检出古代、降解的线粒体 其他研究方法 优势 缺陷 PCR扩增 + NGS测序 通量较高 较难获得长PCR片段 离心分离+ NGS测序 提取试剂盒,流程操作 流程复杂,成本较高;特异性低 PCR扩增 + Sanger测序 起始模板量可以很少;可避免线粒体假基因的干扰 PCR局限性,只能检测20%以上突变 从转录组数据中获得线粒体序列 可获得基因功能相关信息 成本高;特异性低 线粒体捕获测序简介 人线粒体(mitochondrion)DNA是细胞内独立于核基因组DNA而存在的遗传物质,由16569个碱基组成,包含37个编码基因,线粒体遗传结构变异、生理功能缺陷与多种疾病相关。 应用领域 应用实例 进化分析 人类起源、进化和迁徙规律等研究 法医学 提供种属识别、个体识别、推断个体年龄等遗传学证据 疾病相关研究 衰老与退行性疾病(帕金森、阿尔茨海默症等) 代谢性疾病(线粒体糖尿病等) 肿瘤 遗传病(家族性耳聋、眼病、肌病等) 线粒体基因缺陷导致的部分疾病列表 疾病名称 疾病基因 常见突变位点 遗传类型 Kearns-Sayre综合症 多基因缺失 mtDNA大片段缺失