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：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.