公开(公告)号：US10253366B2

公开(公告)日：2019-04-09

申请号：US15142881

申请日：2016-04-29

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 ,  C12Q1/6881

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.

公开(公告)号：US20180305756A1

公开(公告)日：2018-10-25

申请号：US15503338

申请日：2015-08-12

申请人： Progenika Biopharma S.A.

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

IPC分类号： C12Q1/6881

CPC分类号： C12Q1/6881 ,  C12Q1/6827 ,  C12Q2600/156 ,  C12Q2600/16 ,  C12Q2600/172 ,  C12Q2525/15 ,  C12Q2535/122 ,  C12Q2537/143 ,  C12Q2537/16 ,  C12Q2545/101

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：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：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：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：US20160244830A1

公开(公告)日：2016-08-25

申请号：US15142881

申请日：2016-04-29

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：US09359643B2

公开(公告)日：2016-06-07

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 ,  C12P19/34 ,  C07H21/02 ,  C07H21/04

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：US20150376708A1

公开(公告)日：2015-12-31

申请号：US14850363

申请日：2015-09-10

申请人： Progenika Biopharma, S.A.

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

IPC分类号： C12Q1/68 ,  G06F19/24 ,  G06F19/20

CPC分类号： C12Q1/6883 ,  C12Q1/6876 ,  C12Q2600/156 ,  G16B20/00 ,  G16B25/00 ,  G16B40/00

摘要： A method for determining the presence or absence of a genetic segment of interest, such as an exon, an intron or a promoter, in a DNA-containing sample, and probe sets for use in such methods, including probe sets comprising oligonucleotide probes having nucleotides sequences selected from those of SEQ ID NOS: 1-101.

摘要翻译： 用于确定在含DNA样品中存在或不存在感兴趣的遗传节段如外显子，内含子或启动子的方法，以及用于此类方法的探针组，包括包含具有核苷酸的寡核苷酸探针的探针组 选自SEQ ID NO：1-101的序列。