| 序号 | 专利名 | 申请号 | 申请日 | 公开（公告）号 | 公开（公告）日 | 发明人 |
|---|---|---|---|---|---|---|
| 1 | 间充质干细胞体外传代基因组稳定性检测方法 | CN201410025142.3 | 2014-01-20 | CN103789424A | 2014-05-14 | 王有为; 韩之波 |
| 本发明公开了一种检测间充质干细胞体外传代基因组稳定性的方法，由下述步骤组成：（1）原代分离间充质干细胞；（2）对原代分离的间充质干细胞进行短期传代，冻存建库。定义为供者原代传代细胞库；（3）复苏供者原代传代细胞，并对其进行长期传代；（4）提取低代次和高代次脐带间充质干细胞之基因组DNA；（5）采用高通量的生物芯片或测序技术，比较低代次和高代次间充质干细胞基因组DNA的差异；（6）基于高通量分析结果，对供者原代传代细胞基因组稳定性做出评价。本发明可以排除基因组不稳定的间充质干细胞，筛选出基因组稳定的间充质干细胞，增加干细胞临床应用的安全性。 | ||||||
| 2 | 胎儿DNA芯片及其应用 | CN201410013123.9 | 2014-01-13 | CN103740827A | 2014-04-23 | 蔡光伟; 梁德杨; 陈瑛 |
| 本发明公开了一种胎儿DNA芯片及其应用。该胎儿DNA芯片包括固相载体和固定在固相载体上的寡核苷酸探针点阵，所述寡核苷酸探针包含对应于125种怀孕期常见胎儿遗传性或出生缺陷型疾病相关基因的寡核苷酸序列，所述125种疾病包括1q21.2缺失或重复、1q41-q42片段缺失等。藉此该胎儿DNA芯片可构建产前遗传学筛查系统。本发明的胎儿DNA芯片具有平行分析和多重分析特点，可同时检测125种疾病相关的遗传变异，致病区间分辨率和疾病检测准确度高，可靠性良好，能够在怀孕早期针对基因拷贝数异常引起的常见遗传病和出生缺陷进行准确预测和分子诊断，适于临床应用，可对患病胎儿进行重点监测和有效干预，有助于进一步降低出生缺陷的发生率。 | ||||||
| 3 | 植入前遗传筛查用的比较性基因组杂交阵列方法 | CN201610266426.0 | 2011-02-28 | CN105907850A | 2016-08-31 | A.克雷格; A.布朗; N.哈恩 |
| 提供了测试样品基因组DNA中存在拷贝数不均衡的确定方法。所述方法可以分别测量单一测试样品与第一杂交阵列的杂交和多个参照样品与多个其他各自测试阵列的杂交。基于最佳拟合参照阵列，可以相对于待测阵列来确定拷贝数。所述最佳拟合可以在最接近或最相似的测得信号信噪比的基础上予以确定。 | ||||||
| 4 | 多重基因组获得和丢失分析 | CN200880125035.0 | 2008-11-24 | CN101918596B | 2015-09-09 | K·E·阿得勒; M·J·舍默尔 |
| 本发明提供了一种针对染色体获得和丢失的编码小球多重分析，所述分析的益处是可将复杂的大型模板DNA来源(例如BAC DNA)作为探针材料，而没有小球交联或其他分析性能问题。本文描述了用于分析DNA的试剂，所述试剂含有连接有由模板DNA序列扩增得到的扩增子的多个编码颗粒。每个连接的扩增子均含有与模板DNA序列的一个随机部分相同的一段核酸序列，其中所述扩增子合在一起基本上代表完整的模板DNA，并且其中每个扩增子的与模板DNA序列的一个随机部分相同的核酸序列要比所述完整的模板DNA短。 | ||||||
| 5 | 植入前遗传筛查用的比较性基因组杂交阵列方法 | CN201180024202.4 | 2011-02-28 | CN102892904A | 2013-01-23 | A.克雷格; A.布朗; N.哈恩 |
| 提供了测试样品基因组DNA中存在拷贝数不均衡的确定方法。所述方法可以分别测量单一测试样品与第一杂交阵列的杂交和多个参照样品与多个其他各自测试阵列的杂交。基于最佳拟合参照阵列，可以相对于待测阵列来确定拷贝数。所述最佳拟合可以在最接近或最相似的测得信号信噪比的基础上予以确定。 | ||||||
| 6 | 多重基因组获得和丢失分析 | CN200880125035.0 | 2008-11-24 | CN101918596A | 2010-12-15 | K·E·阿得勒; M·J·舍默尔 |
| 本发明提供了一种针对染色体获得和丢失的编码小球多重分析，所述分析的益处是可将复杂的大型模板DNA来源(例如BAC DNA)作为探针材料，而没有小球交联或其他分析性能问题。本文描述了用于分析DNA的试剂，所述试剂含有连接有由模板DNA序列扩增得到的扩增子的多个编码颗粒。每个连接的扩增子均含有与模板DNA序列的一个随机部分相同的一段核酸序列，其中所述扩增子合在一起基本上代表完整的模板DNA，并且其中每个扩增子的与模板DNA序列的一个随机部分相同的核酸序列要比所述完整的模板DNA短。 | ||||||
| 7 | 分析染色体易位的方法及其系统 | CN201280023177.2 | 2012-03-12 | CN103534359B | 2016-07-06 | M.法雷尔; T.M.格罗甘; H.尼塔; 张文军 |
| 本公开内容涉及用于分析染色体易位的系统和方法，并且具体地涉及通过原位杂交对染色体易位的分析。所述方法采用5’探针、3’探针和在断裂点附近结合，任选地，与该断裂点重叠的探针。所述探针经不同标记。具体地，描述了在检测牵涉ALK基因的易位中的用途。 | ||||||
| 8 | 植入前遗传筛查用的比较性基因组杂交阵列方法 | CN201180024202.4 | 2011-02-28 | CN102892904B | 2016-05-25 | A.克雷格; A.布朗; N.哈恩 |
| 提供了测试样品基因组DNA中存在拷贝数不均衡的确定方法。所述方法可以分别测量单一测试样品与第一杂交阵列的杂交和多个参照样品与多个其他各自测试阵列的杂交。基于最佳拟合参照阵列，可以相对于待测阵列来确定拷贝数。所述最佳拟合可以在最接近或最相似的测得信号信噪比的基础上予以确定。 | ||||||
| 9 | 一种快速检索病原物特异性检测靶标的方法 | CN201510341295.3 | 2015-06-18 | CN105255998A | 2016-01-20 | 周泽扬; 罗洁; 潘国庆; 杜孝田 |
| 本发明公开了一种快速检索病原物特异性检测靶标的方法。本发明的快速检索病原物特异性检测靶标的方法在基因组水平快速查找新型病原生物的物种特异基因，能够在较短的时间内建立病新型原物的特异地分子诊断，适用于突发疫病、新型变异病原物等病理学特征未知、传播途径未知等人们研究不深入的病原物的快速检测与诊断。 | ||||||
| 10 | 分析染色体易位的方法及其系统 | CN201280023177.2 | 2012-03-12 | CN103534359A | 2014-01-22 | M.法雷尔; T.M.格罗甘; H.尼塔; 张文军 |
| 本发明内容涉及用于分析染色体易位的系统和方法，并且具体地涉及通过原位杂交对染色体易位的分析。所述方法采用5’探针、3’探针和在断裂点附近结合，任选地，与该断裂点重叠的探针。所述探针经不同标记。具体地，描述了在检测牵涉ALK基因的易位中的用途。 | ||||||
| 11 | Miller-Dieker综合征检测芯片 | CN201310489007.X | 2013-10-12 | CN103525934A | 2014-01-22 | 徐沁; 梅艳巧; 陈培华 |
| 本发明提供了一种检测Miller-Dieker综合征的基因芯片，该芯片包括片基以及固定在片基上的探针，其中探针为SEQ ID No.1-50所示的核苷酸序列。本发明的诊断芯片操作步骤简单，检测特异性高，稳定性好，从样本抽提到得到扫描结果可在一个工作日内完成，成本低，适用于临床患者基因突变检测、产前诊断和正常人杂合子携带者检测。 | ||||||
| 12 | ゲノムプロファイリングのシステムおよび方法 | JP2014557856 | 2013-02-15 | JP2015508657A | 2015-03-23 | バレット，マイケル・ティー; レンキエウィッツ，エリザベス; ホリー，タラ |
| 本発明は、ゲノムプロファイリングのシステムおよび方法に関し、不均質で多クローン性の新生物細胞集団、好ましくはフローソートされたホルマリン固定パラフィン包埋サンプルのゲノムの鑑別において特に有用である。本発明は、多様な癌腫のゲノムおよび/または異種細胞集団における異常を同定する解像度を改善する方法を包含する。また本発明は、ゲノムの解像度、ならびに多様な集団および/または異種の細胞集団におけるゲノム異常を同定する能力を改善するように設計されたキットも包含する。 | ||||||
| 13 | High throughput method of screening a population for members comprising mutation(s) in a target sequence using alignment-free sequence analysis | US15504211 | 2016-11-03 | US10106849B2 | 2018-10-23 | Travis Wilfred Banks; Daryl John Somers |
| The present invention provides methods for isolation of a member of a population which has one or more mutation(s) in one or more target sequence(s) in a population. The method may comprise the steps of: (a) pooling genomic DNA isolated from each member of the population in one or more dimensions; (b) amplifying the one or more target sequence(s) in the pooled genomic DNA, wherein optionally the amplification products are pooled; (c) sequencing the amplified products or obtaining the sequence reads for the amplified products, wherein, optionally, sequencing is by pair-end sequencing and further comprises merging the paired-end reads into composite read(s); (d) identifying the mutation(s) based on alignment-free sequence analysis of sequencing data, optionally by k-mer analysis and (e) identifying individual member(s) of the population comprising the one or more identified mutations in the target sequences, optionally by high-resolution DNA melting (HRM). | ||||||
| 14 | ASSESSMENT OF RISK OF ANEUPLOIDY | US15905665 | 2018-02-26 | US20180291454A1 | 2018-10-11 | Alan Handyside |
| The present disclosure relates generally to methods and materials for use in detecting abnormalities of the number of whole chromosomes or chromosome regions (aneuploidy). It has particular utility for assessing the risk of aneuploidy of eggs (i.e., oocytes), fertilised eggs or embryos developed therefrom in the context of in vitro fertilisation. | ||||||
| 15 | GENOMIC CLASSIFIER THAT PREDICTS RESPONSE TO MULTI-KINASE INHIBITOR TREATMENT INTRODUCTION | US15537263 | 2015-12-18 | US20170342499A1 | 2017-11-30 | Jean-Yves BLAY; Xiaojun JIANG; Olivier TREDAN; Isabelle RAY COQUARD |
| The method for predicting the anti-tumor response in a human or animal having a tumor to multiple kinase inhibitors, using any multiple kinase inhibitor, comprises selection of genes encoding for protein kinases targeted by the said tyrosine kinase inhibitor, for each one of these genes, providing at least one nucleic acid probe which hybridizes to said gene under stringent conditions, thus providing an array of nucleic acid probes, having a biological sample containing cancer cells from said human or animal, extracting DNA from the sample, fragmenting into DNA fragments, optionally labeling the DNA fragments, submitting the optionally labeled DNA fragments to hybridization with the array of nucleic acid probes, recovering and quantifying for all the genes the gains or losses in gene copy numbers, wherein gains and losses of gene copy numbers of each selected gene are used to determine whether the tumor is sensitive or not to said kinase inhibitor. | ||||||
| 16 | ASSESSMENT OF RISK OF ANEUPLOIDY | US14760630 | 2014-03-26 | US20150337381A1 | 2015-11-26 | Alan HANDYSIDE |
| The present disclosure relates generally to methods and materials for use in detecting abnormalities of the number of whole chromosomes or chromosome regions (aneuploidy). It has particular utility for assessing the risk of aneuploidy of eggs (i.e., oocytes), fertilised eggs or embryos developed therefrom in the context of in vitro fertilisation. | ||||||
| 17 | IN VITRO GENETIC DIAGNOSTIC OF INHERITED NEUROMUSCULAR DISORDERS | US14426553 | 2013-09-06 | US20150247196A1 | 2015-09-03 | Pascal Soularue; David Atlan; Valerie Allamand; Marc Bartoli; Christophe Beroud; Gisele Bonne; Patrice Bourgeois; Sebahattin Cirak; Mireille Cossee; Rafael De Cid; Martin Krahn; Nicolas Levy; Francesco Muntoni; Isabelle Richard |
| The present invention provides a method for determining all the molecular causes of Inherited Neuromuscular Disorders comprising determining a number of copy number variation(s), and/or determining a number of point mutation(s) on a physiological sample comprising a genome of a subject. | ||||||
| 18 | REAGENTS AND METHODS RELATING TO DNA ASSAYS USING AMPLICON PROBES ON ENCODED PARTICLES | US13773089 | 2013-02-21 | US20130157899A1 | 2013-06-20 | Karl Edwin Adler, JR.; Mack J. Schermer |
| Encoded bead multiplex assays for chromosomal gains and losses are provided that provide the benefits of complex, large template DNA sources, such as BAC DNA, as the probe material without bead networking or other assay performance problems. Reagents for assaying DNA are described herein which include a plurality of encoded particles having attached amplicons amplified from a template DNA sequence. Each individual attached amplicon includes a nucleic acid sequence identical to a random portion of the template DNA sequence, wherein the amplicons together represent substantially the entire template DNA and wherein the nucleic acid sequence identical to a random portion of the template DNA sequence of each individual amplicon is shorter than the entire template DNA. | ||||||
| 19 | DNA assays using amplicon probes on encoded particles | US13052795 | 2011-03-21 | US08404463B2 | 2013-03-26 | Karl Edwin Adler, Jr.; Mack J. Schermer |
| Encoded bead multiplex assays for chromosomal gains and losses are provided that provide the benefits of complex, large template DNA sources, such as BAC DNA, as the probe material without bead networking or other assay performance problems. Reagents for assaying DNA are described herein which include a plurality of encoded particles having attached amplicons amplified from a template DNA sequence. Each individual attached amplicon includes a nucleic acid sequence identical to a random portion of the template DNA sequence, wherein the amplicons together represent substantially the entire template DNA and wherein the nucleic acid sequence identical to a random portion of the template DNA sequence of each individual amplicon is shorter than the entire template DNA. | ||||||
| 20 | COMPARATIVE GENOMIC HYBRIDIZATION ARRAY METHOD FOR PREIMPLANTATION GENETIC SCREENING | US12724865 | 2010-03-16 | US20110230362A1 | 2011-09-22 | Andrew CRAIG; Anthony BROWN; Nicholas HAAN |
| A method for determining the presence of a copy number imbalance in genomic DNA of a test sample is provided. The method can separately measure hybridization of a single test sample to a first hybridization array and hybridization of a plurality of reference samples to a plurality of other, respective test arrays. A determination of copy number can be based on the best fit reference array, relative to the test array. The best fit can be determined based on the closest or most similar signal-to-noise ratio of the measured signals. | ||||||
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