HLA-DQB1*03:626 differs from DQB1*03:02:01:01 by one nucleotide change in gDNA at position 1795 in Exon 2.
To systematically analyse HLA-A, -B and -C and human platelet antigen (HPA) genotypes of platelet donors in Jilin Province using next-generation sequencing (NGS) technology, a comprehensive donor database was established. Additionally, potential novel alleles were identified, providing a scientific basis for enhancing the safety of clinical blood transfusions. DNA fragments from 200 platelet donor samples in Jilin Province were amplified using locus-specific primers. Comprehensive sequencing of HLA and HPA genes was performed via NGS. Bioinformatics analysis was employed to process genotyping results and screen for novel genetic variants. Newly discovered alleles were validated by Sanger sequencing to ensure accuracy and reliability. HLA genotyping achieved three-field allele resolution, revealing the highest-frequency alleles are as follows: HLA-A*11:01:01, HLA-B*13:02:01, HLA-C*01:02:01 and C*03:04:01. A novel allele B*49:91 (mutation: E2 24T>C) was identified. For the HPA systems (HPA-1, -2, -3, -5, -6, -15, -21), high heterozygosity was observed in HPA-3 and HPA-15, while no bb homozygosity was detected in HPA-1, -2, -5, -6 or -21. The application of NGS in constructing a platelet HLA/HPA gene database enables high-resolution genotyping, laying a critical foundation for precise platelet matching. This significantly reduces the risk of platelet transfusion refractoriness (PTR) and facilitates the discovery of novel allelic variants. The database provides essential theoretical and practical guidance for future donor screening and personalised transfusion strategies.
HLA-A*03:541 differs from HLA-A*03:01:01:01 by a single nucleotide substitution at position 728 of the cDNA in exon 4.
HLA-DRB3*02:240 differs from HLA-DRB3*02:20 by one nucleotide substitution in codon 74 in exon 2.
Compared with HLA-A*02:07:01:01, the alleles HLA-A*02:1205 and HLA-A*02:07:27 each show one nucleotide substitution, respectively.
HLA-A*02:1229 differs from HLA-A*02:07:01:01 by a single nucleotide substitution at position 1014 T>A.
MICB*075 differs from MICB*004:01:11 by a single nucleotide substitution in codon 6 within exon 2.
HLA-DQB1*02:80:02 differs from HLA-DQB1*02:02:01:01 by one nucleotide substitution in codon 174 in exon 3.
HLA-A*32:207 differs from HLA-A*32:01:01:01 by one nucleotide substitution in codon 334 in exon 7.
The HLA-DPB1*1000:01 allele is characterised by a single nucleotide substitution in exon 3.
HLA-DQB1*02:02:41 differs from HLA-DQB1*02:02:01:01 by one synonymous nucleotide substitution at Codon 39 in Exon 2.
The novel allele HLA-A*02:04:03 was detected with long-read sequencing but failed to be detected by short-read sequencing.
HLA-DQB1*05:386 differs from HLA-DQB1*05:01:01:01 by a non-synonymous substitution in exon 4.
A single nonsynonymous nucleotide substitution at nucleotide 365 of HLA-B*52:01:01:01 results in the novel HLA-B*52:139 allele.
HLA-DQB1*06:03:60 differs from HLA-DQB1*06:03:01:01 by a single synonymous nucleotide substitution at position 174 in Exon 2.
HLA-A*23:163 differs from HLA-A*23:01:01:03 by a single nucleotide substitution at position 925 of the cDNA.
HLA-DRB3*01:127 differs from the HLA-DRB3*01:01:02:01 allele by one nucleotide substitution in the exon 3.
HLA-B*57:212 differs from HLA-B*57:01:01:01 by a single nucleotide substitution in exon 5.
Compared with HLA-DQB1*02:02:01:01, the alleles HLA-DQB1*02:239 and HLA-DQB1*02:271 each show one nucleotide substitution, respectively.
