Progenika Biopharma S.a.

Jorge Ochoa

Diego Tejedor

Monica Lopez

Antonio Martinez

Laureano Simon

Araitz Molano

David Arteta

Sergio Escorza

Marianne Stef

David Garcia

Mariá José Illescas

Antonio Martìnez

Mónica López

Antonio Martínez

Monica LÓPEZ

David García

Laureano Simón

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.

Consensus-based allele detection

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.

Discrimination of blood type variants

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*csand 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.

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.

Probes and methods for determining the presence or absence of genetic segments

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Derio, Spain

Jorge Ochoa