The novel HLA-DPA1*02:02:15 allele differs from HLA-DPA1*02:02:02:01 by one nucleotide substitution in exon 1.

To analyze the sequence of a novel HLA-DPB1 allele in an individual.

Polymorphism of killer-cell immunoglobulin-like receptors (KIRs) and their HLA class I ligands impacts the effector activity of cytotoxic NK cell and T cell subsets. Therefore, understanding the extent and implications of KIR and HLA class I genetic polymorphism across various populations is important for immunological and medical research. In this study, we conducted a high-resolution investigation of KIR and HLA class I diversity in three distinct Chinese ethnic minority populations. We studied the She, Yugur, and Tajik, and compared them with the Zhejiang Han population (Zhe), which represents the majority Southern Han ethnicity. Our findings revealed that the Tajik population exhibited the most diverse KIR copy number, allele, and haplotype diversity among the four populations. This diversity aligns with their proposed ancestral origin, closely resembling that of Iranian populations, with a relatively higher presence of KIR-B genes, alleles, and haplotypes compared with the other Chinese populations. The Yugur population displayed KIR distributions similar to those of the Tibetans and Southeast Asians, whereas the She population resembled the Zhe and other East Asians, as confirmed by genetic distance analysis of KIR. Additionally, we identified 12.9% of individuals across the three minority populations as having KIR haplotypes characterized by specific gene block insertions or deletions. Genetic analysis based on HLA alleles yielded consistent results, even though there were extensive variations in HLA alleles. The observed variations in KIR interactions, such as higher numbers of 2DL1-C2 interactions in Tajik and Yugur populations and of 2DL3-C1 interactions in the She population, are likely shaped by demographic and evolutionary mechanisms specific to their local environments. Overall, our findings offer valuable insights into the distribution of KIR and HLA diversity among three distinct Chinese ethnic minority populations, which can inform future clinical and population studies.

The novel HLA‐DPA1*02:02:15 allele differs from HLA‐DPA1*02:02:02:01 by one nucleotide substitution in exon 1.

The novel HLA-DPA1*02:02:15 allele differs from HLA-DPA1*02:02:02:01 by one nucleotide substitution in exon 1.

Compared with HLA‐DRB1*08:03:02:01, the alleles HLA‐DRB1*08:03:13 and HLA‐DRB1*08:119 each show one nucleotide substitution, respectively.

OBJETIVE:To analyze the sequence of a novel HLA-DPB1 allele in an individual. METHODS:A individual identified from the database of blood donors for matched platelet transfusion at the Blood Center of Zhejiang Province in May 2022 was selected as the study subject. HLA genotype of the individual was determined by next-generation sequencing (NGS) on an Ion Torrent S5 platform. The sequence of the HLA-DPB1 locus was also determined by NGS on an Illumina Miseq platform and third-generation sequencing using Oxford Nanopore MinION. This study was approved by the Blood Center of Zhejiang Province (Ethics No. 2021-001). RESULTS:A novel HLA-DPB1*02 allele was identified in the specimen, for which the closest genotype was HLA-DPB1*02:new,17:01:01G, with the variant located in exon 3. Meanwhile, the NGS also revealed a novel HLA-DPB1*17 allele, with the closest genotype being HLA-DPB1*02:01,17:new. Both the HLA-DPB1*17:01:01:01 and HLA-DPB1*02 alleles were identified by third-generation sequencing. Compared with the HLA-DPB1*02:01:02:01 allele, the novel allele had a G>A variation at position 369 in the exon 3, which however did not result in amino acid change. CONCLUSION:A novel HLA-DPB1 allele has been identified and validated by both NGS and TGS, which has been named as HLA-DPB1*02:01:69 by the World Health Organization Committee on Nomenclature of Factors of the HLA System.

HLA-DQB1*05:305 shows one single nucleotide substitution at position 664 compared with HLA-DQB1*05:03:01:01.

Compared with HLA-DRB1*08:03:02:01, the alleles HLA-DRB1*08:03:13 and HLA-DRB1*08:119 each show one nucleotide substitution, respectively.

HLA‐DQB1*05:305 shows one single nucleotide substitution at position 664 compared with HLA‐DQB1*05:03:01:01.

HLA-DQB1*05:305 shows one single nucleotide substitution at position 664 compared with HLA-DQB1*05:03:01:01.

KIR3DP1*00604 differs from KIR3DP1*0060101 by one single nucleotide substitution G > C at position 252.

HLA-E*01:151 differs from HLA-E*01:03:01:01 by a single nucleotide substitution at position 890 C>T in exon 5.

Compared to the HLA-DQB1*03:03:02:01, the HLA-DQB1*03:477 and HLA-DQB1*03:487 alleles each show one single nucleotide substitution.

HLA-A*11:01:117 differs from HLA-A*11:01:01:01 by a single nucleotide substitution at position 780 A>G.

Compared with HLA-DRB1*08:03:02:01, the alleles HLA-DRB1*08:03:13 and HLA-DRB1*08:119 each show one nucleotide substitution, respectively.

The Zhejiang Han population, a subgroup of the Southern Han ethnic group, resides in Zhejiang Province, situated on the southeast coast of China. In this study, we conducted HLA genotyping for 813 voluntary umbilical cord blood donors from the Zhejiang Han population, targeting 11 HLA loci, namely HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3/4/5, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1, using the next-generation sequencing method. Our analysis of the alleles and haplotypes revealed a high degree of polymorphism within these loci. A total of 289 unique HLA alleles were identified, with the HLA-B locus exhibiting the most significant diversity, while HLA-DRB4 displayed the lowest variation. Due to the inherent limitations of the sequencing method, some unresolvable alleles in the specific loci, such as HLA-DRB1, HLA-DPA1, and HLA-DPB1, were assigned as G group designation. In our comprehensive analysis across all 11 HLA loci, a total of 1204 haplotypes were estimated. The distribution of these alleles was similar to those of the Chinese Southern Han population while highly different from the Caucasian population. These findings contribute to a deeper understanding of the genetic characteristics of HLA loci within the Chinese Southern Han population.

Compared with HLA‐A*33:03:01:01 , the HLA‐A*33:03:55 allele shows one nucleotide substitution at position 6.

HLA‐C*08:232 differs from HLA‐C*08:01:01:01 by a single nucleotide substitution at position 629 A > G.

Compared with HLA-A*33:03:01:01, the HLA-A*33:03:55 allele shows one nucleotide substitution at position 6.