Accurate data on the frequencies of various blood antigens are essential for a rare blood program, which can then be used to predict the availability of blood products for use in patients with the corresponding antibodies. The definition of a rare blood group depends on the prevalence of blood antigens in a specific population. The Korean rare blood program (KRBP), known as the Korean national recipient registry, was established in July 2013. One study performed blood group analysis using NGS data from 2,504 people provided by the 1000 Genomes Project, but Korean data were not included. NGS can detect new alleles in addition to known SNPs and establish new weak or silencing alleles. NGS enables the evaluation of whole-genome sequences to detect gene rearrangements and analyze copy numbers. Erythrocyte genotyping using next-generation sequencing (NGS) has several advantages.
Several commercial multiplexed molecular diagnostic kits are currently available, but they do not cover all known blood group genes, and at most, they only identify 35–37 of red blood cell antigens from 10–11 blood groups. However, SNP-based molecular diagnosis or Sanger sequencing have limitations as they cannot include all known blood group genes or detect new blood group antigen alleles. Molecular testing is easy to automate, can be multiplexed, and does not require expensive and difficult-to-find antisera, making it possible to test a broader range of blood types for patients and donors, and to help identify donors and select blood products for rare blood types. That is, SNP-based molecular testing and Sanger sequencing are used to analyze specific SNPs, alongside DNA microarray methods in clinical laboratories. DNA-based molecular diagnostics (genotyping) have replaced serological methods. Blood group antigen typing is classically conducted using serological testing by hemagglutination, but recently this process has been automated. The diversity of blood group antigens is primarily due to single nucleotide polymorphisms (SNP) in blood group genes.
To date, 43 blood group systems containing 345 red cell antigens have been officially recognized by the International Society of Blood Transfusion (ISBT).
Human red blood cells contain many blood group antigens. Numerous minor blood group systems that were not available in the KRBP data were also included in this study. A comparison of allele frequencies showed no significant differences compared to the KRBP data, but there were differences compared to the Erythrogene data for the Lutheran, Kell, Duffy, Yt, Scianna, Landsteiner-Wiener, and Cromer blood group systems. Except for some blood groups, such as ABO and Lewis, for which it was difficult to predict the alleles using only WGS data, most alleles were successfully predicted in most blood groups.
In particular, the FUT3, GNCT2, B3GALNT1, CR1, and ACHE genes contained numerous variants, with averages of 21.1, 13.9, 13.4, 9.6, and 7.0, respectively. Among 250 WGS data sets from the Korean Reference Genome Project, 70.6 variants were analyzed in 205 samples 45 data samples were excluded due to having no variants. Among the 41 blood group-related genes, hg19 showed variants in the following genes compared to the conventional reference cDNA: GYPA, RHD, RHCE, FUT3, ACKR1, SLC14A1, ART4, CR1, and GCNT2.
0 kommentar(er)
