公开(公告)号：US20110045997A1

公开(公告)日：2011-02-24

申请号：US12528159

申请日：2008-02-21

申请人： Diego Tejedor Hernández ,  Laureano Simón Buela ,  Antonio Martínez Martínez ,  José Ingacio Lao Villadóniga

发明人： Diego Tejedor Hernández ,  Laureano Simón Buela ,  Antonio Martínez Martínez ,  José Ingacio Lao Villadóniga

IPC分类号： C40B30/04 ,  C40B40/06 ,  C07H21/04 ,  G06F17/10

CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/16 ,  G16B20/00

摘要： The invention relates to an “in vitro” method for determining the global genetic risk a subject has of developing a pathology associated with aging. Said method is based on the combination of particular genetic risks of developing common pathologies associated with aging. Said particular genetic risks are determined from the results obtained from the simultaneous genotyping of certain genetic variations associated with said pathologies associated with aging and the main objective of which is the use thereof in anti-aging medicine.

摘要翻译： 本发明涉及一种用于确定受试者具有发展与衰老相关的病理学的全球遗传风险的“体外”方法。 所述方法基于与老化相关的常见病理发展的特定遗传风险的组合。 所述特定的遗传风险是从与老化相关的所述病理学相关的某些遗传变异的同时基因分型获得的结果确定的，其主要目的是其在抗衰老药物中的应用。

公开(公告)号：US20080070253A1

公开(公告)日：2008-03-20

申请号：US11813646

申请日：2006-01-12

申请人： Laureano SIMON BUELA ,  Antonio MARTÍNEZ ,  Diego HERNÁNDEZ ,  Ellsa URIBE ,  Monica MARTÍNEZ ,  Marta OSEÑALDE ,  Lorena GARCÍA

发明人： Laureano SIMON BUELA ,  Antonio MARTÍNEZ ,  Diego HERNÁNDEZ ,  Ellsa URIBE ,  Monica MARTÍNEZ ,  Marta OSEÑALDE ,  Lorena GARCÍA

IPC分类号： C12Q1/68 ,  G06F19/00

CPC分类号： C12Q1/6881 ,  C12Q1/6837 ,  C12Q1/6883 ,  C12Q1/6888 ,  C12Q2600/156 ,  C12Q2600/16 ,  G06F19/00 ,  Y02A90/26

摘要： An in vitro method for genotyping genetic variations in a individual, and products for use in the method.

摘要翻译： 用于个体遗传变异的基因分型的体外方法和用于该方法的产品。

公开(公告)号：US20210011037A1

公开(公告)日：2021-01-14

申请号：US17027503

申请日：2020-09-21

申请人： PROGENIKA BIOPHARMA, S.A.

发明人： ANTONIO MARTINEZ MARTINEZ ,  DANIEL NAGORE CASAS ,  ALBERTO MONASTERIO ASTEINZA ,  NEREA TORRES ANTÚNEZ

IPC分类号： G01N33/94 ,  G01N33/543 ,  G01N33/68 ,  G01N33/558

摘要： A lateral flow immunoassay for the detection of anti-drug antibodies against a biological drug includes a membrane having a capture area, a sample application area, a flow path from the sample application area to the capture area, and a conjugate area located in the flow path. The conjugate area has said biological drug detectably labeled and the capture area has said biological drug immobilized thereto.

公开(公告)号：US10851413B2

公开(公告)日：2020-12-01

申请号：US15503338

申请日：2015-08-12

申请人： Progenika Biopharma S.A.

发明人： Jorge Ochoa ,  David Arteta ,  Mariá José Illescas ,  Monica Lopez ,  Marianne Stef ,  Diego Tejedor ,  Antonio Martìnez

IPC分类号： G16B30/10 ,  C12Q1/6881 ,  C12Q1/6827

摘要： The present invention provides a method for genotyping alleles in at least one homologous genetic loci set, comprising: (i) providing a DNA-containing sample that includes said at least one homologous genetic loci set; (ii) performing PCR amplification of regions of said homologous genetic loci set using consensus sequence-specific primers, wherein said consensus sequence-specific primers bind to consensus sequences that are common to a plurality of genes within the genetic loci set, thereby generating a pool of amplification products; (iii) sequencing a plurality of said amplification products in order to determine the relative proportion of each nucleotide at each position in a sequencing read; (iv) performing a sequence alignment between the sequencing read results of (iii) and at least one reference sequence, which reference sequence corresponds to one of the genes in said homologous genetic loci set; and (v) performing genotype calling of the allele or alleles in said sample based on the relative proportion of each nucleotide at each of a plurality of discriminant positions in said alignment. Also disclose are related products, kits and systems for performing the method.

公开(公告)号：US10830779B2

公开(公告)日：2020-11-10

申请号：US15502733

申请日：2015-07-27

申请人： PROGENIKA BIOPHARMA, S.A.

发明人： Antonio Martinez Martinez ,  Daniel Nagore Casas ,  Alberto Monasterio Asteinza ,  Nerea Torres Antúnez

IPC分类号： G01N33/558 ,  G01N33/94 ,  G01N33/543 ,  G01N33/68

摘要： A lateral flow immunoassay for the detection of anti-drug antibodies against a biological drug includes a membrane having a capture area, a sample application area, a flow path from the sample application area to the capture area, and a conjugate area located in the flow path. The conjugate area has said biological drug detectably labeled and the capture area has said biological drug immobilized thereto.

公开(公告)号：US20160060696A1

公开(公告)日：2016-03-03

申请号：US14938405

申请日：2015-11-11

申请人： Progenika Biopharma, S.A.

发明人： Jorge Ochoa ,  Monica Lopez ,  Diego Tejedor ,  Antonio Martinez ,  Laureano Simon

IPC分类号： C12Q1/68 ,  A61K35/14

CPC分类号： C12Q1/6881 ,  A61K35/14 ,  C12Q2600/156

摘要： The invention relates to genotyping and blood cell antigen determination. In particular, the invention addresses discriminating the RHD*DIIIa-CE(4-7)-D or RHD*DIIIa-CE(4-7)-D)-like blood type variants, from RHD*DIIIa, RHD*DIVa-2 and other blood type variants. The invention provides methods for genotyping a subject, comprising determining at least 4 markers in a sample that has been obtained from the subject, wherein the markers comprise: (i) the presence or absence of an RHCE*C allele; (ii) the presence or absence of an RHD/RHCE hybrid exon 3 (RHD/CE Hex03) allele; (iii) the absence of, or a single nucleotide polymorphism (SNP) variant within, any one of position 602 of exon 4, position 667 of exon 5, or position 819 of exon 6 of RHD; and (iv) the absence of, or SNP variant within, position 1048 of RHD exon 7. The invention also provides probes, primers and kits for use in such methods.

摘要翻译： 本发明涉及基因分型和血细胞抗原测定。 特别地，本发明涉及从RHD * DIIIa，RHD * DIVa-2区分RHD * DIIIa-CE（4-7）-D或RHD * DIIIa-CE（4-7）-D）样血型变异体 和其他血型变体。 本发明提供了用于对受试者进行基因分型的方法，包括确定已从受试者获得的样品中至少4个标记，其中所述标记包括：（i）存在或不存在RHCE * C等位基因; （ii）存在或不存在RHD / RHCE混合型外显子3（RHD / CE Hex03）等位基因; （iii）在外显子4的位置602，外显子5的位置667或RHD的外显子6的位置819中的任何一个中不存在或单个核苷酸多态性（SNP）变体; 和（iv）在RHD外显子7的位置1048内不存在或SNP变体。本发明还提供用于这些方法的探针，引物和试剂盒。

公开(公告)号：US20160032386A1

公开(公告)日：2016-02-04

申请号：US14776277

申请日：2014-01-30

申请人： PROGENIKA BIOPHARMA S.A. ,  BIOIBERICA, S.A.

发明人： Josep Escaich ,  Josep Vergés ,  Ruth Alonso ,  Eulàlia Montell ,  Helena Martínez ,  Marta Herrero ,  Francisco Blanco ,  Antonio Martínez ,  Diego Tejedor ,  Marta Artieda ,  Nerea Bartolomé

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16

摘要： A method for predicting the severity or progression of OA in a human subject, comprising: determining the identity of at least one allele at each of at least 4 positions of single nucleotide polymorphism (SNPs) selected from the group consisting of: rs2206593, rs10465850, rs780094, rs1374281, rs1143634, rs2073508, rs2243250, rs4720262, rs917760, rs7838918, rs12009, rs730720, rs874692, rs893953, rs1799750, rs10845493, rs11054704, rs7986347, rs1802536, rs10519263, rs7342880, rs16947882 and rs10413815, and one or more SNPs in linkage disequilibrium at a level of at least R2≧0.8 therewith, as well as products, in particular systems and kits for use in such a method.

摘要翻译： 一种用于预测人类受试者中OA的严重程度或进展的方法，包括：在选自以下的单核苷酸多态性（SNP）的至少4个位置的每一个位置确定至少一个等位基因的身份：rs2206593，rs10465850， rs780094，rs1374281，rs1143634，rs2073508，rs2243250，rs4720262，rs917760，rs7838918，rs12009，rs730720，rs874692，rs893953，rs1799750，rs10845493，rs11054704，rs7986347，rs1802536，rs10519263，rs7342880，rs16947882和rs10413815，并在连锁不平衡的一种或多种SNP 至少R2≥0.8的水平，以及用于这种方法的产品，特别是系统和试剂盒。

公开(公告)号：US20140255923A1

公开(公告)日：2014-09-11

申请号：US13791284

申请日：2013-03-08

申请人： PROGENIKA BIOPHARMA S.A.

发明人： Jorge Ochoa ,  Monica Lopez ,  Araitz Molano ,  Diego Tejedor ,  Antonio Martinez

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6881 ,  C12Q2600/156 ,  C12Q2600/16

摘要： The present invention provides a method for detecting the presence or absence of, or for discriminating between, blood type variants, including RHD*r′s, RHD*DIIIa and RHD*DIVa-2. The method comprises amplifying by PCR a sample obtained from a human subject at intron 3 of the RHD gene locus. The invention also provides products, in particular, probes, primers and kits for use in the method of the invention.

摘要翻译： 本发明提供一种用于检测血液型变体（包括RHD * r's，RHD * DIIIa和RHD * DIVa-2）的存在或不存在或鉴别的方法。 该方法包括通过PCR扩增从RHD基因座的内含子3处的受试者获得的样品。 本发明还提供了用于本发明方法的产品，特别是探针，底漆和试剂盒。

公开(公告)号：US08669049B1

公开(公告)日：2014-03-11

申请号：US10542937

申请日：2004-01-21

申请人： Pedro Mata Lopez ,  Rodrigo Alberto Alonso Karlezi ,  Pilar Mozas Alonso ,  Gilberto Reyes Leal ,  Miguel Pocovi Mieras ,  Sergio Castillo Fernandez ,  Diego Tejedor Hernandez ,  Antonio Martinez Martinez ,  Miguel Mallen Perez

发明人： Pedro Mata Lopez ,  Rodrigo Alberto Alonso Karlezi ,  Pilar Mozas Alonso ,  Gilberto Reyes Leal ,  Miguel Pocovi Mieras ,  Sergio Castillo Fernandez ,  Diego Tejedor Hernandez ,  Antonio Martinez Martinez ,  Miguel Mallen Perez

IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/02

CPC分类号： C12Q1/6883 ,  C12Q2600/156

摘要： The invention relates to extracorporeal methods of analyzing the presence or absence of mutations which cause familial hypercholesterolemia. The inventive methods describe the way in which said mutations can be detected using a DNA sample from an individual and comprising the following: chain reaction of the polymerase with primers which are complementary to the low-density lipoprotein receptor gene; analysis of the amplified product by sequencing; restriction analysis; single strand conformation polymorphism techniques; heteroduplex analysis and analysis of a device on top of a biochip glass support on which oligonucleotide probes are disposed, which can be used to detect the aforementioned mutations in the DNA.

摘要翻译： 本发明涉及分析引起家族性高胆固醇血症的突变的存在或不存在的体外方法。 本发明的方法描述了使用来自个体的DNA样品可以检测所述突变的方式，其包括以下：聚合酶与低密度脂蛋白受体基因互补的引物的链式反应; 通过测序分析扩增产物; 限制分析; 单链构象多态性技术; 异源二聚体分析和分析在其上设置有寡核苷酸探针的生物芯片玻璃载体上的装置，其可用于检测DNA中的上述突变。

公开(公告)号：US20120172239A1

公开(公告)日：2012-07-05

申请号：US13339058

申请日：2011-12-28

申请人： Jorge Ochoa ,  Monica Lopez ,  Diego Tejedor ,  Antonio Martinez ,  Laureano Simon

发明人： Jorge Ochoa ,  Monica Lopez ,  Diego Tejedor ,  Antonio Martinez ,  Laureano Simon

IPC分类号： C40B20/00 ,  C40B20/08 ,  C07H21/04 ,  C40B40/06 ,  C12Q1/68 ,  G01N21/64

CPC分类号： C12Q1/6881 ,  A61K35/14 ,  C12Q2600/156

摘要： The invention relates to genotyping and blood cell antigen determination. In particular, the invention addresses discriminating the RHD*DIIIa-CE(4-7)-D or RHD*DIIIa-CE(4-7)-D)-like blood type variants, from RHD*DIIIa, RHD*DIVa-2 and other blood type variants. The invention provides methods for genotyping a subject, comprising: a) determining at least 4 markers in a sample that has been obtained from the subject, wherein the markers comprise: (i) the presence or absence of an RHCE*C allele; (ii) the presence or absence of an RHD/RHCE hybrid exon 3 (RHD/CE Hex03) allele; (iii) the absence of, or a single nucleotide polymorphism (SNP) variant within, any one of position 602 of exon 4, position 667 of exon 5, or position 819 of exon 6 of RHD; and (iv) the absence of, or SNP variant within, position 1048 of RHD exon 7. The invention also provides probes, primers and kits for use in such methods.

摘要翻译： 本发明涉及基因分型和血细胞抗原测定。 特别地，本发明涉及从RHD * DIIIa，RHD * DIVa-2区分RHD * DIIIa-CE（4-7）-D或RHD * DIIIa-CE（4-7）-D）样血型变异体 和其他血型变体。 本发明提供了用于对受试者进行基因分型的方法，其包括：a）确定已经从受试者获得的样品中至少4个标记，其中所述标记包括：（i）存在或不存在RHCE * C等位基因; （ii）存在或不存在RHD / RHCE混合型外显子3（RHD / CE Hex03）等位基因; （iii）在外显子4的位置602，外显子5的位置667或RHD的外显子6的位置819中的任何一个中不存在或单个核苷酸多态性（SNP）变体; 和（iv）在RHD外显子7的位置1048内不存在或SNP变体。本发明还提供用于这些方法的探针，引物和试剂盒。