ABO blood type system typing method based on sequencing data and application thereof

Abstract

The invention discloses an ABO blood type system typing method based on sequencing data and application thereof. The method according to the invention comprises the steps of analyzing sequencing dataof a to-be-tested sample by means of a reference sequence and a Bayes classification training data set, and particularly, comparing the sequencing data of the to-be-tested sample for obtaining position and variation information relative to the reference sequence; according to the compared reads information, for each exon, performing assembling overlapping and using the reads with consistent overlapping sequence as a haplotype; according to the number of support reads and coverage score, taking out the haplotype according to the score from highest to lowest, and constructing a candidate haplotype; performing arrangement combination on the variations of all candidate haplotypes, performing scoring based on no contradiction of a distance between the haplotype obtained through arrangement combination and the haplotype in a database, the P value of Bayes classification, the number of support reads and the type, and selecting two haplotypes with highest scores as the final ABO blood type ofthe to-be-tested sample. The method of the invention has advantages of improving blood type typing accuracy, analyzing potential new blood types and performing large-batch analyzing.

Description

technical field [0001] The present application relates to the field of blood type analysis methods, in particular to an ABO blood group system typing method based on sequencing data and its application. Background technique [0002] The ABO blood group system is the most common blood group system. A gene encoding the H antigen encodes the H antigen, and then, the transferase encoded by the ABO gene modifies the H antigen to make it an A antigen or a B antigen. When the nonsense mutation of the ABO gene leads to the loss of transferase activity, the H antigen has not undergone any modification, and it is the antigen of O blood type. A blood group system, such as the ABO blood group system, is a purely genetic characterization, which can use known variation-phenotype databases to perform accurate predictions of red blood cell surface antigens on individuals with unknown blood types, that is, blood group prediction. This is extremely important for patients with multiple trans...

AI Technical Summary

Problems solved by technology

The current PCR-SBT typing method is mainly aimed at determining the genotype of exons 6 and 7 of the ABO gene with relatively concentrated polymorphic sites. Exons 1-5 are not sequenced, and each Differences between ABO blood types may be caused by only a single or a few nucleotide variations, therefore, the PCR-SBT method is likely to cause missed detection of SNP sites

Moreover, the PCR-SBT method is time-consuming and laborious, and is not suitable for ABO blood group identification of large-scale samples

In addition, due to the presence of heterozygotes, in the case of diploid sequencing, the PCR-SBT method cannot distinguish haplotypes, resulting in ambiguous results

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