The Polymorphism of HLA-A,-B,-C,-DRB1,-DQB1,-DRB3/4/5 loci in Zhejiang Han Population,China Using NGS Technology

Abstract

Background The allele and haplotype frequencies of HLA loci are various in the populations. Most of the data for HLA alleles and haplotypes were at low resolution or two fields resolution. Here, the data for HLA alleles and haplotypes at three fields resolution was reported in Chinese Han population. Methods All samples were come from the Zhejiang Cord Blood Bank, China after information consent. HLA-A, -B, -C, -DRB1, -DQB1, -DRB3/4/5 loci was genotyped using next generation sequencing (NGS) method. The allele frequencies of HLA loci were analyzed at three fields resolution. The haplotype estimation and linkage disequilibrium analysis was used Arlequin software 3.5.2.2. Result The top three frequent alleles of HLA-A, -B, -C, -DRB1, -DQB1 loci were A*11:01:01 (25.81%), A*24:02:01 (16.70%), A*02:01:01 (10.61%); B*40:01:02 (15.97%), B*46:01:01 (11.48%), B*58:01:01 (7.96%); C*07:02:01 (19.03%), C*01:02:01 (17.65%), C*03:04:01 (10.41%); DRB1*09:01:02 (17.96%), DRB1*12:02:01 (9.57%), DRB1*08:03:02 (9.54%); DQB1*03:01:01(21.05%), DQB1*03:03:02 (19.15%), DQB1*06:01:01 (12.08%); DRB4*01:03:01(25.72%), DRB3*02:02:01(20.27%), DRB5*01:01:01(10.96%) respectively. A total of 1542 distinct A-B-C-DRB1-DQB1-DRB3/4/5 haplotypes were identified. The alleles of HLA loci were showed strong linkage disequilibrium. Conclusion The data of allele and haplotype of HLA-A, -B, -C, -DRB1, -DQB1 and -DRB3/4/5 loci at three fields resolution level was obtained, which will help to analyze the HLA ploymorphism in the populations.

Identification of the novel HLA‐C*07:976 allele by polymerase chain reaction sequence‐based typing

“…According to the IPD‐IMGT/HLA Database (Release 3.46, October 2021), a total of 6,855 HLA‐C alleles have been identified 2 . The HLA‐C*07:02 allele is common in the Chinese population, with a frequency of 19.03% in the Zhejiang Han population,China 3 . In this report, we describe the novel HLA‐C*07 allele, officially named as HLA‐C*07:976, that has been identified in a bone marrow donor from the Chinese Marrow Donor Program.…”

Characterization of the novel HLA‐A*11:383N and HLA‐A*11:388N alleles by next‐generation sequencing

“…In order to provide potential hematopoietic stem cell donors for transplantation in China, CMDP was established in 1992 and responsible for the registration of hematopoietic stem cell donors, and over 2.96 million donors have joined the CMDP as of November 2021. The donors from the CMDP have been genotyped for the HLA‐A, ‐B, ‐C, ‐DRB1, and ‐DQB1 loci using the next‐generation sequencing method since 2018 in our laboratory 2–4 . All HLA genotyping procedures were performed using a AllType™ NGS 9‐loci Amplification kit (Life Technologies, Shanghai, China) according to our previous reports 2–4 .…”

“…The donors from the CMDP have been genotyped for the HLA‐A, ‐B, ‐C, ‐DRB1, and ‐DQB1 loci using the next‐generation sequencing method since 2018 in our laboratory 2–4 . All HLA genotyping procedures were performed using a AllType™ NGS 9‐loci Amplification kit (Life Technologies, Shanghai, China) according to our previous reports 2–4 . The genotype of the donor was assigned using the TypeStream Visual Software version 2.0.0 (One Lambda Inc., Canoga Park, CA).…”

Description of two new HLA‐C alleles: HLA‐C*07:900 and HLA‐C*07:906

“…2 The HLA-C*07:02 allele is common in the Chinese population, with a frequency of 19.03% in the Zhejiang Han population, China. 3 Here, we describe two novel HLA-C alleles, officially named as HLA-C*07:900 and C*07:906, that have been identified in the Chinese individuals.…”

“…The specimen was firstly genotyped for HLA-A, -B, -C, -DRB1, and -DQB1 loci using next generation sequencing method according to our previous report. 3 The sequencing result showed HLA-C alleles of the donor as HLA-C*04:03 and a novel HLA-C*07 allele, now named HLA-C*07:900. When compared with HLA-C*07:02:01:01, the novel HLA-C*07:900 allele has a single nucleotide substitute at position 457 G > A in exon 3, which leads to an amino acid change from Aspartic acid to Asparagine at residue 129 (Figure 1).…”