[Analysis for Eight ABO Alleles in Korean Population.]

Area of Science:

• Molecular Biology
• Genetics
• Forensic Science

Context:

• ABO blood group genotyping is essential for resolving discrepancies in blood transfusions and for applications in legal medicine.
• Advances in understanding ABO gene polymorphisms necessitate improved genotyping methods capable of detecting diverse alleles.
• Existing methods may not adequately cover the spectrum of known ABO allele variations.

Purpose:

• To develop and evaluate a novel polymerase chain reaction using sequence-specific priming (PCR-SSP) method for the accurate detection of eight ABO alleles.
• To assess the utility of the developed PCR-SSP method in distinguishing between closely related alleles, such as A(1)(Pro) vs. A(1)(Leu) and O(1) vs. O(1v).
• To determine the allele frequencies of common ABO types in the Korean population.

Summary:

• A PCR-SSP method utilizing 12 primer sets was developed and applied to genomic DNA from 222 Korean individuals.
• The method demonstrated high accuracy, with genotype patterns precisely matching ABO phenotypes.
• Allele frequencies for A(1), B, O(1), and O(1v) were determined, and specific variants like A(1)(Pro) were quantified. The O(1v) allele frequency was unexpectedly high, similar to O(1).

Impact:

• The developed PCR-SSP method provides a reliable and accurate tool for ABO genotyping, addressing the need for detecting multiple polymorphisms.
• This technique can improve the resolution of ABO discrepancies and enhance its application in forensic investigations.
• The findings contribute to population genetics data by providing allele frequencies for the Korean population and highlighting the prevalence of the O(1v) allele.