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    Genotyping tool for improving the prognostic and clinical management of MS patients
    2.
    发明授权
    Genotyping tool for improving the prognostic and clinical management of MS patients 有权
    用于改善MS患者预后和临床管理的基因分型工具

    公开(公告)号：US08835111B2

    公开(公告)日：2014-09-16

    申请号：US13255871

    申请日：2010-03-12

    申请人： David Arteta ,  Marta Artieda ,  Diego Tejedor ,  Antonio Martinez ,  Laureano Simon ,  Bart A. Crusius ,  Salvador Pena ,  Madeleine Sombekke ,  Bernard Uitdehaag ,  Chris Polman

    发明人： David Arteta ,  Marta Artieda ,  Diego Tejedor ,  Antonio Martinez ,  Laureano Simon ,  Bart A. Crusius ,  Salvador Pena ,  Madeleine Sombekke ,  Bernard Uitdehaag ,  Chris Polman

    IPC分类号： C12Q1/68 ,  C12P19/34 ,  A61K39/395

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： The invention relates to methods of evaluating MS severity based on analysis of single nucleotide polymorphisms (SNPs) and to products and kits for use in such methods. The methods include a method of assessing a multiple sclerosis disease severity phenotype in a human subject having multiple sclerosis, by determining the genotype of the subject at one or more positions of single nucleotide polymorphism (SNP) selected from: rs2107538, rs1137933, rs1318, rs2069763, rs423904, rs876493, rs10243024, rs10259085, rs1042173, rs10492503, rs10492972, rs12047808, rs12202350, rs12861247, rs13353224, rs1350666, rs1555322, rs1611115, rs17641078, rs1805009, rs2028455, rs2032893, rs2049306, rs2066713, rs2074897, rs2076530, rs2187668, rs2213584, rs2227139, rs2234978, rs2239802, rs2395182, rs260461, rs28386840, rs3087456, rs3135388, rs3741981, rs3756450, rs3781202, rs3787283, rs3808585, rs4128767, rs4404254, rs4473631, rs4680534, rs6077690, rs6457594, rs6570426, rs659366, rs6917747, rs7208257, rs7528684, rs7577925, rs762550, rs7956189, rs7995215, rs8049651, rs8702, rs9808753 and rs987107, and/or a SNP in linkage disequilibrium with any one of said SNPs.

    摘要翻译： 本发明涉及基于单核苷酸多态性（SNPs）的分析以及用于这些方法的产品和试剂盒来评估MS严重性的方法。 所述方法包括通过确定在选自以下的单核苷酸多态性（SNP）的一个或多个位置处的受试者的基因型来评估具有多发性硬化的人受试者的多发性硬化症严重程度表型的方法：rs2107538，rs1137933，rs1318，rs2069763 ，rs423904，rs876493，rs10243024，rs10259085，rs1042173，rs10492503，rs10492972，rs12047808，rs12202350，rs12861247，rs13353224，rs1350666，rs1555322，rs1611115，rs17641078，rs1805009，rs2028455，rs2032893，rs2049306，rs2066713，rs2074897，rs2076530，rs2187668，rs2213584，rs2227139 ，rs2234978，rs2239802，rs2395182，rs260461，rs28386840，rs3087456，rs3135388，rs3741981，rs3756450，rs3781202，rs3787283，rs3808585，rs4128767，rs4404254，rs4473631，rs4680534，rs6077690，rs6457594，rs6570426，rs659366，rs6917747，rs7208257，rs7528684，rs7577925，rs762550 ，rs7956189，rs7995215，rs8049651，rs8702，rs9808753和rs987107，和/或与所述SNP中的任一个连锁不平衡的SNP。

    METHOD FOR THE IDENTIFICATION BY MOLECULAR TECHNIQUES OF GENETIC VARIANTS THAT ENCODE NO D ANTIGEN (D-) AND ALTERED C ANTIGEN (C+W)
    3.
    发明申请
    METHOD FOR THE IDENTIFICATION BY MOLECULAR TECHNIQUES OF GENETIC VARIANTS THAT ENCODE NO D ANTIGEN (D-) AND ALTERED C ANTIGEN (C+W) 审中-公开
    通过编码无抗原（D-）和改变的抗原（C + W）的遗传变异体的分子技术鉴定方法

    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。

    DISCRIMINATION OF BLOOD TYPE VARIANTS
    4.
    发明申请
    DISCRIMINATION OF BLOOD TYPE VARIANTS 有权
    血型变异的辨认

    公开(公告)号：US20140220567A1

    公开(公告)日：2014-08-07

    申请号：US14126819

    申请日：2012-06-14

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

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

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6881 ,  C12Q2600/156 ,  C12Q2600/16 ,  C12Q2600/172

    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, RHD*DIVa-2, RHCE*css and RHCE*ce733G. The method comprises genotyping a sample obtained from a human subject at one or more positions in intron 7 of the RHD gene and/or in intron 7 of the RHCE gene. 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，RHD * DIIIa，RHD * DIVa-2，RHCE * css和RHCE * ce733G）的存在或不存在或鉴别的方法。 该方法包括在RHD基因的内含子7和/或RHCE基因的内含子7中的一个或多个位置从人受试者获得的样品基因分型。 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。

    GENOTYPING TOOL FOR IMPROVING THE PROGNOSTIC AND CLINICAL MANAGEMENT OF MS PATIENTS
    5.
    发明申请
    GENOTYPING TOOL FOR IMPROVING THE PROGNOSTIC AND CLINICAL MANAGEMENT OF MS PATIENTS 有权
    用于改善MS患者的预防和临床管理的基因工具

    公开(公告)号：US20120065096A1

    公开(公告)日：2012-03-15

    申请号：US13255871

    申请日：2010-03-12

    申请人： David Arteta ,  Marta Artieda ,  Diego Tejedor ,  Antonio Martinez ,  Laureano Simon ,  Bart A. Crusius ,  Salvador Pena ,  Madeleine Sombekke ,  Bernard Uitdehaag ,  Chris Polman

    发明人： David Arteta ,  Marta Artieda ,  Diego Tejedor ,  Antonio Martinez ,  Laureano Simon ,  Bart A. Crusius ,  Salvador Pena ,  Madeleine Sombekke ,  Bernard Uitdehaag ,  Chris Polman

    IPC分类号： C40B30/04 ,  C40B40/06

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： The invention relates to methods of evaluating MS severity based on analysis of single nucleotide polymorphisms (SNPs) and to products and kits for use in such methods. The methods include a method of assessing a multiple sclerosis disease severity phenotype in a human subject having multiple sclerosis, by determining the genotype of the subject at one or more positions of single nucleotide polymorphism (SNP) selected from: rs2107538, rs1137933, rs1318, rs2069763, rs423904, rs876493, rs10243024, rs10259085, rs1042173, rs10492503, rs10492972, rs12047808, rs12202350, rs12861247, rs13353224, rs1350666, rs1555322, rs1611115, rs17641078, rs1805009, rs2028455, rs2032893, rs2049306, rs2066713, rs2074897, rs2076530, rs2187668, rs2213584, rs2227139, rs2234978, rs2239802, rs2395182, rs260461, rs28386840, rs3087456, rs3135388, rs3741981, rs3756450, rs3781202, rs3787283, rs3808585, rs4128767, rs4404254, rs4473631, rs4680534, rs6077690, rs6457594, rs6570426, rs659366, rs6917747, rs7208257, rs7528684, rs7577925, rs762550, rs7956189, rs7995215, rs8049651, rs8702, rs9808753 and rs987107, and/or a SNP in linkage disequilibrium with any one of said SNPs.

    摘要翻译： 本发明涉及基于单核苷酸多态性（SNPs）的分析以及用于这些方法的产品和试剂盒来评估MS严重性的方法。 所述方法包括通过确定在选自以下的单核苷酸多态性（SNP）的一个或多个位置处的受试者的基因型来评估具有多发性硬化的人受试者的多发性硬化症严重程度表型的方法：rs2107538，rs1137933，rs1318，rs2069763 ，rs423904，rs876493，rs10243024，rs10259085，rs1042173，rs10492503，rs10492972，rs12047808，rs12202350，rs12861247，rs13353224，rs1350666，rs1555322，rs1611115，rs17641078，rs1805009，rs2028455，rs2032893，rs2049306，rs2066713，rs2074897，rs2076530，rs2187668，rs2213584，rs2227139 ，rs2234978，rs2239802，rs2395182，rs260461，rs28386840，rs3087456，rs3135388，rs3741981，rs3756450，rs3781202，rs3787283，rs3808585，rs4128767，rs4404254，rs4473631，rs4680534，rs6077690，rs6457594，rs6570426，rs659366，rs6917747，rs7208257，rs7528684，rs7577925，rs762550 ，rs7956189，rs7995215，rs8049651，rs8702，rs9808753和rs987107，和/或与所述SNP中的任一个连锁不平衡的SNP。