Identification of a novel HLA-C*01 allele, C*01:73 , by sequence-based typing D.-F. Zeng, C. Chang, X. Zhang & P.-Y. Kong Department of Hematology, Xinqiao Hospital, Third Military Medical University, Chongqing, P. R. China Key words: HLA-C*01:73 ; new human leukocyte allele; sequence-based typing

The new allele HLA-C*01:73 differs from C*01:02:01 by 10 nucleotide changes.

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Human leukocyte antigen (HLA) is a highly polymorphic cell surface glycoprotein, which plays an important role in the immune response. The HLA-C gene is located within the class I region of the major histocompatibility complex; it © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Tissue Antigens, 2014, 83, 358–373

are identical to those of HLA-C*01:02:01 except for 10 nucleotide changes as Figure 1 shows. The nucleotide changes resulting in amino acid changes from Gly(G) to Met(M) at codon 45, from Glu(E) to Ala(A) at codon 46, from Val(V) to Ile(I) at codon 52. The nucleotide sequence has been submitted to the EMBL nucleotide sequence database and the accession number was JX050188. The HLA genotype of the patient was HLA-A*31:01 , 11:01 ; B*46:01 , 46:01 ; C*01:73 , 01:02 ; DRB1*09:01 , 08:03 ; DQB1*03:03 , 06:01 . The name HLA-C*01:73 has been officially assigned by the World Health Organization (WHO) Nomenclature Committee in June 2012. This follows the agreed policy that, subject to the conditions stated in the Nomenclature Report (3), names will be assigned to new sequences as they are identified. Correspondence

Figure 1 The nucleotide sequence and the amino acid sequence of the exon 2 of C*01:73 compared with the sequence of C*01:02:01. The dashes indicate the nucleotide identity with the C*01:02:01 sequence. Numbers below the sequence correspond to the position.

is expressed on the surface of most cells and involved in antigen presentation (1). With the development of new gene sequencing methods, the number of HLA alleles identified has grown rapidly. At present, more than 2000 HLA-C alleles have been identified in the population through the world. In this report, we present a novel HLA-C allele, HLA-C*01:73 , that has been identified in a donor in China. A female donor was typed for the HLA-A, -B, -C, -DRB1 and -DQB1 loci using SeCoreTM sequence-specific primer (SSP)-typing kits (Invitrogen, Camarillo, CA). While the HLA-C locus of the sample was unusual, it was impossible to assign the HLA-C genotype of this sample. To clarify the HLA-C alleles, the generic primer polymerase chain reaction-sequence-based typing (PCR-SBT) was used for HLA-C high-resolution typing. Finally, in order to characterize the new alleles, allele-specific sequencing of exons 2 was performed using a group-specific primer according to Dormoy et al. (2). The sequences of exons 2 of HLA-C*01:73

© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Tissue Antigens, 2014, 83, 358–373

Pei-Yan Kong Department of Hematology Xinqiao Hospital Third Military Medical University Chongqing P. R. China Tel: 86 2368774209 Fax: 86 2368763198 e-mail: [email protected] doi: 10.1111/tan.12324

Acknowledgments

This work was sponsored by Natural Science Foundation of Chongqing (No. cstc2013jcyjA1468).

Conflict of interests

The authors have declared no conflicting interests. References 1. Robinson J, Malik A, Parham P, Bodmer JG, Marsh SGE. IMGT/HLA – a sequence database for the human major histocompatibility complex. Tissue Antigens 2000: 55: 280–7. 2. Dormoy A, Froelich N, Leisenbach R et al. Mono-allelic amplification of exons 2–4 using allele group-specific primers for sequence-based typing (SBT) of the HLA-A, -B and -C genes: preparation and validation of ready-to-use pre-SBT mini-kits. Tissue Antigens 2003: 62: 201–16. 3. Marsh SGE, Albert ED, Bodmer WF et al. Nomenclature for factors of the HLA system, 2010. Tissue Antigens 2010: 75: 291–455.

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Identification of a novel HLA-C*01 allele, C*01:73, by sequence-based typing.

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