NEXT-GENERATION SEQUENCING TO IDENTIFY ABO BLOOD GROUP

摘要

Provided are methods of phase-defined genotyping of both alleles of the glycosyltransferase (ABO) locus of a human subject. In certain embodiments the methods include a sequencing step using next-generation sequencing. In certain embodiments the methods include a sequencing step using sequencing-by-synthesis. In certain embodiments the methods further include the steps of comparing contiguous composite nucleotide sequences to a library of reference genomic sequences encoding a region comprising exon (6) and exon (7) of the ABO locus, and identifying individual contiguous composite nucleotide sequences as either (i) a sequence encoding a region comprising a known exon (6) and exon (7) of the ABO locus, or (ii) a sequence encoding a region comprising a novel exon (6) and/or exon (7) of the ABO locus. Also provided are kits for phase-defined genotyping of both alleles of the ABO locus of a human subject.