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    CONSENSUS-BASED ALLELE DETECTION
    1.
    发明申请
    CONSENSUS-BASED ALLELE DETECTION 审中-公开

    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.

    GENETIC MARKERS FOR THE PROGNOSIS OF MULTIPLE SCLEROSIS
    6.
    发明申请
    GENETIC MARKERS FOR THE PROGNOSIS OF MULTIPLE SCLEROSIS 审中-公开
    遗传标记为多发性硬化症预防

    公开(公告)号：US20130184167A1

    公开(公告)日：2013-07-18

    申请号：US12809726

    申请日：2008-12-18

    申请人： Pablo Villoslada Díaz ,  Ricardo Palacios Urtasun ,  Jorge Sepulcre Bernad ,  Laureano Simón Buela ,  Antonio Martínez Martínez

    发明人： Pablo Villoslada Díaz ,  Ricardo Palacios Urtasun ,  Jorge Sepulcre Bernad ,  Laureano Simón Buela ,  Antonio Martínez Martínez

    IPC分类号： C12Q1/68 ,  G06F19/00

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/118 ,  C12Q2600/158 ,  G16H50/70 ,  Y02A90/26

    摘要： The present invention relates to a series of genes the expression of which is altered in subjects suffering multiple sclerosis with respect to healthy subjects or in subjects suffering multiple sclerosis with a good prognosis with respect to subjects suffering multiple sclerosis with a bad prognosis. A subset formed by 13 genes and two clinical variables which allows predicting the progress of a patient with a high reliability has been validated from an initial set of genes which showed said differential expression. From said expression values, the invention provides methods for predicting the progress of a patient diagnosed with multiple sclerosis from tables of conditional probability between the expression levels of a determined gene or group of genes and the probability that the patient has a good or bad prognosis of the disease.

    摘要翻译： 本发明涉及一系列基因，其表达在相对于健康受试者的多发性硬化患者或患有多发性硬化的受试者中相对于具有不良预后的多发性硬化患者具有良好预后而改变。 由显示所述差异表达的初始基因组验证了由13个基因和两个临床变量形成的子集，其允许预测具有高可靠性的患者进展。 根据所述表达值，本发明提供了从确定的基因或基因组表达水平之间的条件概率表中预测诊断为多发性硬化症的患者的进展的方法以及患者具有良好或不良预后的可能性 这种病。

    DISCRIMINATION OF BLOOD TYPE VARIANTS
    10.
    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。