公开(公告)号：WO2013134860A1

公开(公告)日：2013-09-19

申请号：PCT/CA2013/000248

申请日：2013-03-15

Applicant: UNIVERSITY HEALTH NETWORK

Inventor： DIAMANDIS, Eleftherios P. ,  PRASSAS, Ioannis ,  MAKAWITA, Shalini ,  CHRYSTOJA, Caitlin ,  KOSANAM, Hari, M.

IPC: G01N33/48 ,  C12Q1/68 ,  G01N33/574 ,  C40B30/00

CPC classification number: G01N33/57484 ,  G01N33/57419 ,  G01N33/57423 ,  G01N33/57434 ,  G01N33/57438 ,  G01N2333/705

Abstract: A method of evaluating a probability a subject has a cancer, diagnosing a cancer and/or monitoring cancer progression comprising: a. measuring an amount of a biomarker selected from the group consisting of CUZD1 and/or LAMC2 and/or the group CUZD1, LAMC2, AQP8,, CELA2B, CELA3B,, CTRB1, CTRB2, GCG, IAPP, INS, KLK1, PNLIPRP1, PNLIPRP2, PPY, PRSS3, REG3G, SLC30A8, KLK3, NPY, PSCA, RLN1, SLC45A3, DSP, GP73, DSG2, CEACAM7, CLCA1, GPA33, LEFTY1, ZG16, IRX5, LAMP3, MFAP4, SCGB1A1, SFTPC, TMEM100, NPY, PSCA, RLN1 and/or SLC45A3 in a test sample from a subject with cancer; wherein the cancer is pancreas cancer if CUZD1, LAMC2, AQP8, CELA2B, CELA3B, CTRB1, CTRB2, GCG, IAPP, INS, KLK1, PNLIPRP1, PNLIPRP2, PPY, PRSS3, REG3G, SLC30A8, DSP, GP73 and/or DSG2 is selected; the cancer is colon cancer if CEACAM7, CLCA1, GPA33, LEFTY1 and/or ZG16 is selected, the cancer is lung cancer if IRX5, LAMP3, MFAP4, SCGB1A1, SFTPC and/or TMEM100 is selected; or the cancer is prostate cancer if NPY, PSCA, RLN1 and/or SLC45A3 is selected; b. comparing the measured amount to a control and detecting an increase in the amount of the biomarker compared to control; and c. identifying the subject as having or having an increased probability of having the cancer when an increase in the biomarker compared to control is detected.

Abstract translation: 评估受试者患有癌症，诊断癌症和/或监测癌症进展的可能性的方法，包括：a。 测量从CUZD1和/或LAMC2和/或组CUZD1，LAMC2，AQP8，CELA2B，CELA3B，CTRB1，CTRB2，GCG，IAPP，INS，KLK1，PNLIPRP1，PNLIPRP2组成的组中选择的生物标志物的量， PPY，PRSS3，REG3G，SLC30A8，KLK3，NPY，PSCA，RLN1，SLC45A3，DSP，GP73，DSG2，CEACAM7，CLCA1，GPA33，LEFTY1，ZG16，IRX5，LAMP3，MFAP4，SCGB1A1，SFTPC，TMEM100，NPY，PSCA， 来自患有癌症的受试者的测试样品中的RLN1和/或SLC45A3; 其中如果选择了CUZD1，LAMC2，AQP8，CELA2B，CELA3B，CTRB1，CTRB2，GCG，IAPP，INS，KLK1，PNLIPRP1，PNLIPRP2，PPY，PRSS3，REG3G，SLC30A8，DSP，GP73和/或DSG2，则该癌症是胰腺癌 ; 如果选择CEACAM7，CLCA1，GPA33，LEFTY1和/或ZG16，癌症是结肠癌，如果选择了IRX5，LAMP3，MFAP4，SCGB1A1，SFTPC和/或TMEM100，则该癌是肺癌; 或者如果选择NPY，PSCA，RLN1和/或SLC45A3，则癌症是前列腺癌; 湾 将测量的量与对照相比较并检测与对照相比生物标志物的量的增加; 和c。 当检测到与对照相比生物标志物的增加时，将受试者识别为具有或具有增加的癌症概率的受试者。

公开(公告)号：WO2013119871A1

公开(公告)日：2013-08-15

申请号：PCT/US2013/025223

申请日：2013-02-07

Applicant: CHILDREN'S HOSPITAL MEDICAL CENTER

Inventor： WONG, Hector, R. ,  LINDSELL, Christopher, John ,  SALISBURY, Shelia

IPC: G01N33/50 ,  G01N33/68 ,  C40B30/00 ,  C12Q1/68

CPC classification number: C12Q1/6888 ,  C12Q1/6883 ,  C12Q2600/112 ,  C12Q2600/158 ,  C12Q2600/16 ,  G01N33/68 ,  G01N2800/26

Abstract: Methods and compositions disclosed herein generally relate to methods of identifying, validating, and measuring clinically relevant, quantifiable biomarkers of diagnostic and therapeutic responses for blood, vascular, cardiac, and respiratory tract dysfunction, particularly as those responses relate to septic shock in pediatric patients. In particular, the invention relates to identifying one or more biomarkers associated with septic shock in pediatric patients, obtaining a sample from a pediatric patient having at least one indication of septic shock, then quantifying from the sample an amount of one or more of said biomarkers, wherein the level of said biomarker correlates with a predicted outcome. The invention further relates to diagnostic kits, tests, and/or arrays that can be used to quantify the one or more biomarkers associated with septic shock in pediatric patients.

Abstract translation: 本文公开的方法和组合物通常涉及识别，验证和测量临床相关的，可量化的血液，血管，心脏和呼吸道功能障碍的诊断和治疗反应的生物标志物的方法，特别是那些反应涉及儿科患者的败血性休克。 特别地，本发明涉及鉴定儿科患者中与败血性休克相关的一种或多种生物标志物，从具有至少一种败血性休克指征的儿科患者获得样品，然后从样品中量化一种或多种所述生物标志物 其中所述生物标志物的水平与预测结果相关。 本发明还涉及可用于量化与儿科患者中的败血性休克相关的一种或多种生物标志物的诊断试剂盒，测试和/或阵列。

公开(公告)号：WO2013040697A1

公开(公告)日：2013-03-28

申请号：PCT/CA2012/000893

申请日：2012-09-21

Applicant: TROST, Brett ,  KUSALIK, Anthony ,  NAPPER, Scott ,  ARSENAULT, Ryan ,  GRIEBEL, Philip

Inventor： TROST, Brett ,  KUSALIK, Anthony ,  NAPPER, Scott ,  ARSENAULT, Ryan ,  GRIEBEL, Philip

IPC: C40B40/10 ,  C40B30/00 ,  C40B30/02 ,  C40B50/02 ,  G01N33/50 ,  G01N33/68 ,  G06F19/28

CPC classification number: G06F19/20 ,  C07K1/047 ,  G01N2440/14 ,  G06F19/22 ,  G06F19/24 ,  G06F19/28

Abstract: A method of preparing a species-specific phosphorylation site peptide array for a target organism comprising: a) selecting a plurality of known non-target organism (NTO) phosphorylation site sequences and cognate known NTO phosphorylation polypeptide sequences from one or more NTO, each of the known NTO phosphorylation site sequences comprising at least 5 residues and less than 30 residues; b) identifying a matching target organism (TO) phosphorylation site sequence and cognate TO phosphorylation polypeptide sequence for one or more of the known NTO phosphorylation site sequences; c) determining the matching TO phosphorylation site sequences that correspond to orthologue polypeptides of the cognate known NTO phosphorylation polypeptide sequences; d) selecting the matching TO phosphorylation site sequences determined to correspond to orthologue polypeptides for inclusion on the array; wherein the matching TO phosphorylation site sequences that correspond to orthologue polypeptides are determined by calculating, for each matching phosphorylation site sequence identified in b), a similarity value between the TO phosphorylation polypeptide sequence corresponding to the TO phosphorylation site sequence and a TO polypeptide sequence matching the cognate known NTO polypeptide sequence.

Abstract translation: 制备靶生物的物种特异性磷酸化位点肽阵列的方法，包括：a）从一个或多个NTO中选择多个已知的非靶生物（NTO）磷酸化位点序列和同源的已知NTO磷酸化多肽序列，每个 已知的NTO磷酸化位点序列包含至少5个残基和少于30个残基; b）鉴定一种或多种已知NTO磷酸化位点序列的匹配靶生物（TO）磷酸化位点序列和同源TO磷酸化多肽序列; c）确定与同源已知的NTO磷酸化多肽序列的直向同源多肽相对应的匹配的TO磷酸化位点序列; d）选择确定为对应于直向同源多肽的匹配的TO磷酸化位点序列以包含在阵列上; 其中对应于直向同源多肽的匹配的TO磷酸化位点序列通过对于b）中鉴定的每个匹配的磷酸化位点序列计算，对应于TO磷酸化位点序列的TO磷酸化多肽序列与匹配的TO多肽序列之间的相似性值 同源已知的NTO多肽序列。

公开(公告)号：WO2013029155A1

公开(公告)日：2013-03-07

申请号：PCT/CA2012/000799

申请日：2012-08-29

Applicant: THE ROYAL INSTITUTE FOR THE ADVANCEMENT OF LEARNING/MCGILL UNIVERSITY ,  JUNKER, David ,  LI, Huiyan

Inventor： JUNKER, David ,  LI, Huiyan

IPC: C40B30/04 ,  C40B30/00 ,  C40B60/12 ,  G01N33/543 ,  G01N35/10

CPC classification number: C40B60/02 ,  B01J2219/00382 ,  B01J2219/00533 ,  B01J2219/00704 ,  B01J2219/00725 ,  B01J2219/0074 ,  B01L3/50853 ,  B01L3/5088 ,  B01L3/563 ,  B01L2200/0642 ,  B01L2200/16 ,  B01L2300/0819 ,  B01L2300/0822 ,  C40B20/02 ,  G01N33/54366 ,  G01N33/6845

Abstract: Rapid and specific detection of biological cells and biomolecules is important to biological assays across diverse fields including genomics, proteomics, diagnoses, and pathological studies. Microarrays and microfluidics increasingly dominate such detection techniques due to the ability to perform significant numbers of tests with limited sample volumes. A snap chip assembly is provided for the transfer of a microarray of reagents within semi-spherical liquid droplets on a transfer chip to a target assay microarray on an assay chip following assembly of the two chips and physical contact of the droplets with the target array. Reagents in nanolitre quantities are spotted on both chips and selectively transferred from liquid droplets on the transfer chip to the assay chip within the contact areas. Using the snap chip structure the inventors performed immunoassays with colocalization of capture and detection antibodies with 10 targets and bead-in-gel droplet microarrays with 9 targets in the low pg/ml regime.

Abstract translation: 生物细胞和生物分子的快速和特异性检测对于包括基因组学，蛋白质组学，诊断和病理学研究在内的不同领域的生物测定是重要的。 由于能够以有限的样品量执行大量测试，因此微阵列和微流体学越来越多地主导这种检测技术。 提供了一种快插芯片组件，用于在组装两个芯片并且液滴与目标阵列的物理接触之后，将转移芯片上的半球形液滴内的试剂微阵列转移到测定芯片上的靶分析微阵列上。 纳米数量的试剂被发现在两个芯片上并且选择性地从转移芯片上的液滴转移到接触区域内的测定芯片上。 使用快速芯片结构，本发明人使用具有10个靶的凝胶捕获和检测抗体进行免疫测定，并在低pg / ml方案中用9个靶标进行珠凝胶液滴微阵列。

公开(公告)号：WO2012134602A2

公开(公告)日：2012-10-04

申请号：PCT/US2012/000185

申请日：2012-04-02

Applicant: CENTRILLION TECHNOLOGY HOLDING CORPORATION ,  ZHOU, Wei ,  MEI, Rui ,  CRNOGORAC, Filip ,  LIAO, Guochun ,  LUCAS, Julian

Inventor： ZHOU, Wei ,  MEI, Rui ,  CRNOGORAC, Filip ,  LIAO, Guochun ,  LUCAS, Julian

IPC: C12Q1/68 ,  C40B30/00

CPC classification number: C12Q1/6869 ,  C12Q1/6874 ,  C12Q2525/185 ,  C12Q2527/113 ,  C12Q2535/122

Abstract: The present invention provides methods and systems for sequencing long nucleic acid fragments. In one aspect of the invention, methods, systems and reagent kits are provided for sequencing nucleic acid target sequences. Some embodiments of the methods, systems and reagent kits are particularly suitable for sequencing a large number of fragments, particularly long fragments.

Abstract translation: 本发明提供了用于测序长核酸片段的方法和系统。 在本发明的一个方面，提供了用于测序核酸靶序列的方法，系统和试剂盒。 方法，系统和试剂盒的一些实施方案特别适用于测序大量片段，特别是长片段。

公开(公告)号：WO2012018387A2

公开(公告)日：2012-02-09

申请号：PCT/US2011/001363

申请日：2011-08-02

Applicant: POPULATION DIAGNOTICS, INC. ,  HATCHWELL, Eli ,  EIS, Peggy, S.

Inventor： HATCHWELL, Eli ,  EIS, Peggy, S.

IPC: G06F19/00 ,  C40B30/04 ,  C12Q1/68 ,  C40B30/00

CPC classification number: C12Q1/6883 ,  C12Q1/6827 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/16 ,  G06F19/18 ,  G06F19/24 ,  C12Q2537/16 ,  C12Q2537/165

Abstract: The compositions and methods provided herein allow for identification of causative genetic biomarkers for a disease condition or drug response.

Abstract translation: 本文提供的组合物和方法允许鉴定疾病状况或药物反应的致病遗传生物标志物。

公开(公告)号：WO2012000119A8

公开(公告)日：2012-01-05

申请号：PCT/CA2011/050409

申请日：2011-07-04

Applicant: PROGNOMIX INC. ,  HAMET, Pavel ,  TREMBLAY, Johanne ,  DE CHAMPLAIN, Jacques ,  NADEAU, Réginald ,  LAROCHELLE, Pierre ,  CHALMERS, John ,  MACMAHON, Stephen

Inventor： HAMET, Pavel ,  TREMBLAY, Johanne ,  DE CHAMPLAIN, Jacques ,  NADEAU, Réginald ,  LAROCHELLE, Pierre ,  CHALMERS, John ,  MACMAHON, Stephen

IPC: C12Q1/68 ,  G01N33/68 ,  C40B30/00

Abstract: The present invention concerns a method of determining a predisposition to atrial fibrillation (AF) in a subject comprising: determining the presence of at least one copy of a risk allele from at least one polymorphic marker in a sample from the subject, wherein the presence of at least one copy of the risk allele is indicative of a predisposition to AF, and wherein said at least one polymorphic marker is :a) rs4674485; b) rs1466560; c) rs1880039; d) rs3849387; e) rs7039; f) rs2952860; g) rs9312515; h) rs1897527; i) rs2299277; j) rs2418828; k) rs2385833; I) rs6717960; m) rs10510266; or n) a substitute polymorphic marker in linkage disequilibrium with any one of the polymorphic markers of a) to m). Also described are kits for determining a predisposition to atrial fibrillation (AF) and uses therefore.

公开(公告)号：WO2011156529A2

公开(公告)日：2011-12-15

申请号：PCT/US2011/039683

申请日：2011-06-08

Applicant: NUGEN TECHNOLOGIES, INC. ,  RAYMOND, Christopher ,  KURN, Nurith ,  MAGNUS, Jill

Inventor： RAYMOND, Christopher ,  KURN, Nurith ,  MAGNUS, Jill

IPC: C40B40/06 ,  C40B30/00 ,  C40B30/04 ,  C07H21/02

CPC classification number: C12Q1/6855 ,  C12Q1/6869 ,  C12Q2525/301 ,  C12Q2535/122 ,  C12Q2537/143 ,  C12Q2563/179 ,  C12Q2525/121 ,  C12Q2525/191

Abstract: Adapters are joined to target polynucleotides to create adapter-tagged polynucleotides. Adapter- tagged polynucleotides are sequenced simultaneously and sample sources are identified on the basis of barcode sequences.

Abstract translation: 将适配体连接到靶多核苷酸以产生适配子标记的多核苷酸。 适配器标记的多核苷酸同时测序，并且基于条形码序列鉴定样品源。

公开(公告)号：WO2011132175A3

公开(公告)日：2011-12-15

申请号：PCT/IB2011051763

申请日：2011-04-22

Applicant: BRITISH COLUMBIA CANCER AGENCY ,  HUNTSMAN DAVID G ,  MARRA MARCO ,  WIEGAND KIMBERLY ,  HIRST MARTIN ,  SHAH SOHRAB PRAKASH

Inventor： HUNTSMAN DAVID G ,  MARRA MARCO ,  WIEGAND KIMBERLY ,  HIRST MARTIN ,  SHAH SOHRAB PRAKASH

IPC: G01N33/48 ,  C12Q1/68 ,  C40B30/00 ,  G01N33/50 ,  G01N33/574 ,  G01N33/68

CPC classification number: G01N33/689 ,  A61K31/713 ,  C12N15/1079 ,  C12Q1/6886 ,  C12Q2600/106 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/158 ,  G01N33/5011 ,  G01N33/57442 ,  G01N33/57449 ,  G01N2800/50 ,  G01N2800/56

Abstract: Novel biomarkers and targets associated with ovarian cancer, particularly clear-cell carcinoma, endometrioid carcinoma, and uterine carcinoma, are disclosed. Mutations in genes encoding proteins that form part of the SWI/SNF chromatin remodelling protein complex, including ARID1A, or loss of expression of such proteins, including BAF250a, can be used to evaluate the likelihood endometriosis will progress or transform to cancer, to provide a prognosis for a patient with cancer, to assess whether conventional treatment is likely to be effective against a cancer, and/or in a synthetic lethal screen to identify novel targets and therapeutics for the treatment of cancer.

Abstract translation: 公开了与卵巢癌，特别是透明细胞癌，子宫内膜样癌和子宫癌相关的新型生物标志物和靶标。 编码构成SWI / SNF染色质重塑蛋白复合物（包括ARID1A）的一部分的蛋白质的基因或包括BAF250a在内的这些蛋白质表达丧失的基因中的突变可用于评估子宫内膜异位症进展或转化为癌症的可能性，以提供 评估癌症患者的预后，以评估常规治疗是否可能有效抵抗癌症，和/或在合成致死屏幕中鉴定用于治疗癌症的新靶标和治疗剂。

公开(公告)号：WO2011150515A1

公开(公告)日：2011-12-08

申请号：PCT/CA2011/050326

申请日：2011-05-31

Applicant: UNIVERSITE LAVAL ,  LEVESQUE, Eric ,  GUILLEMETTE , Chantal ,  FRADET, Yves ,  LACOMBE, Louis

Inventor： LEVESQUE, Eric ,  GUILLEMETTE , Chantal ,  FRADET, Yves ,  LACOMBE, Louis

IPC: C12Q1/68 ,  C40B30/00 ,  C40B30/04 ,  C40B40/06

CPC classification number: C12Q1/6886 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/172

Abstract: Purpose. The relationship between inherited genetic variations in 5α-reductase type 1 (SRD5A1) and type 2 (SRD5A2) genes and the risk of biochemical recurrence after radical prostatectomy (RP) in prostate cancer (PCa) remains a fairly unexplored area of research. Patients and Methods. We studied 526 men with organ-confined and locally advanced PCa with a median follow-up time of 7.4 years. We investigated the effects of allelic variants of SRD5A1 and SRD5A2 genes and haplotype-tagging single nucleotide polymorphisms (htSNPs; n=19) on recurrence-free survival after RP using Kaplan-Meier plots, the log-rank test, and Cox proportional hazard models. Results. Upon adjusting for known prognostic clinical and pathological factors, eight htSNPs were shown to be independent predictors of recurrence. The SRD5A1 rs 166050 polymorphism was associated with an increased recurrence risk of HR=1.83 (95% CI, 1.04-3.21; P=0.035), while the rs518673 in SRD5A1 was associated with a decreased risk (HR=0.59, 95% CI, 0.41-0.85; P=0.004). The SRD5A2 gene was strongly associated with the risk of relapse with six polymorphisms being positively associated with recurrence including the known SRD5A2 V89L (rs523349) (HR=2.14, 95% CI, 1.23-3.70; P=0.007) and a protective htSNP rs12470143 with a HR of 0.66, (95% CI, 0.46-0.95; P=0.023). By combining SRD5A1 (rs518673T) and SRD5A2 (rs 12470143 A), the protective effect was shown to be additive with the maximum protection conferred by 3 or 4 alleles (HR=0.33, 95% CI, 0.17-0.63; P=0.001). Conclusion. Germline polymorphisms in 5α-reductase genes are independent prognostic genetic biomarkers that predict PCa biochemical recurrence after radical prostatectomy and may represent useful molecular tools for a genotype-tailored clinical approach.

Abstract translation: 目的。 前列腺癌（PCa）中5型还原酶1型（SRD5A1）和2型（SRD5A2）基因遗传遗传变异与根治性前列腺切除术后生化复发的风险之间的关系仍然是一个尚未开发的研究领域。 患者和方法 我们研究了526名患有器官限制和局部晚期PCa的男性，中位随访时间为7.4年。 我们调查了使用Kaplan-Meier图，对数秩检验和Cox比例风险模型，SRD5A1和SRD5A2基因的等位基因变体和单倍型标签单核苷酸多态性（htSNPs; n = 19）对无复发生存率的影响 。 结果。 在调整已知的预后临床和病理因素后，8个htSNPs显示为复发的独立预测因子。 SRD5A1 rs 166050多态性与HR = 1.83（95％CI，1.04-3.21; P = 0.035）复发风险增加相关，SRD5A1 rs518673与风险降低有关（HR = 0.59,95％CI， 0.41-0.85; P = 0.004）。 SRD5A2基因与复发风险强烈相关，其中六个多态性与复发呈正相关，包括已知的SRD5A2 V89L（rs523349）（HR = 2.14,95％CI，1.23-3.70; P = 0.007）和保护性htSNP rs12470143与 HR为0.66（95％CI，0.46-0.95; P = 0.023）。 通过组合SRD5A1（rs518673T）和SRD5A2（rs 12470143 A），保护作用显示为3或4个等位基因赋予的最大保护（HR = 0.33,95％CI，0.17-0.63; P = 0.001）。 结论。 5a还原酶基因中的种系多态性是独立的预后遗传生物学标志物，可预测根治性前列腺切除术后的PCa生化复发，并可能代表基因型定制临床方法的有用分子工具。