Sequencing analysis of a rare human leukocyte antigen, C*08:99, from a volunteer donor of hematopoietic stem cell transplantation

doi:10.3969/j.issn.2095-4344.2016.01.018

Abstract

Abstract:

BACKGROUND: As the sequencing technology has been widely used and high-resolution confirmation of organ transplant matching has been gradually developed, new human leukocyte antigen (HLA) alleles are emerging. However, the gene frequency of some genes cannot be calculated accurately, and there are rare reports. These genes are often ignored, and it is easy to misjudge their genotypes only according to gene frequency.

OBJECTIVE: To test and analyze a rare allele, HLA-C*08:99, from a volunteer donor of hematopoietic stem cell transplantation.

METHODS: Genomic DNA was extracted automatically from the blood sample by using quick DNA purified kit and amplified by HLA-C locus commercial sequence-based typing kit. The purified PCR product was utilized as the DNA template in the sequencing reaction, and six direct sequencing reactions of PCR product covering exons 2, 3 and 4 in both directions were performed using commercial kit. Four direct sequencing reactions of PCR product covering exon 5 in both directions, exon 6 in forward direction and exon 7 in reverse direction were performed using in-house BigDye terminator cycle sequencing reaction kit. Sequencing reaction products purified by ethanol/sodium acetate/ ethylenediaminetetraacetic acid method were sequenced by ABI PrismTM3730 DNA Sequencer.

RESULTS AND CONCLUSION: The allele assignment was analyzed with Assign-SBT 3.6+ software, and the sample HLA-C typing result was C*07:04, 08:99. Increasing the sequencing analysis at exons 5, 6 and 7 of HLA-C locus will help to make clear the ambiguous SBT result and improve the accuracy of HLA-C typing when it is necessary, which shows important significance in clinical tissue matching.

中国组织工程研究杂志出版内容重点：干细胞；骨髓干细胞；造血干细胞；脂肪干细胞；肿瘤干细胞；胚胎干细胞；脐带脐血干细胞；干细胞诱导；干细胞分化；组织工程

CLC Number:

R394.2

Wang Da-ming, Zou Hong-yan, Nie Dong-mei, Gao Su-qing, Wang Fei . Sequencing analysis of a rare human leukocyte antigen, C*08:99, from a volunteer donor of hematopoietic stem cell transplantation[J]. Chinese Journal of Tissue Engineering Research, 2016, 20(1): 102-106.

Figures/Tables 1

References

[1] Colonna M, Brooks EG, Ferrara GB, et al. Generation of allospecific natural killer cells by stimuluLation across a polymorphism of HLA-C. Science. 1993;260(5111):1121- 1124.

[2] Li J, Qu X, Zhang C, et al. Characterization of 236 novel alleles at the HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 loci from China Marrow Donor Program. Tissue Antigens. 2011; 78:267-270.

[3] 高素青,徐筠娉,王大明,等. HLA-Cw基因常规检测区外第1、5、6、7外显子核苷酸序列测定的研究及临床应用[J].中华检验医学杂志,2011,33(6):513-516.

[4] Petemdorf EW, Longton GM, Anasetti C, et al. Association of HLA-C disparity with graft failure after marrow transplantation from unrelated donors. Blood. 1997;89:1818-1823.

[5] Ferrara GB, Bacigalupo A, Lamparelli T, et al. Bone marrow transplantation from unrelated donors:the impact of mismatches with substitutions at position 116 of the human|eukocyte antigen class I heavy chain. Blood. 2001; 98:3150-3155.

[6] Chalandon Y, Tiercy JM, Schanz U, et al. Impact of high resolution matching in allogeneie unrelated donor stem cell transplantation in Switzerland. Bone Marrow Transplant. 2006;37:909-916.

[7] Loiseau P, Busson M, Balere ML, et al. HLA Association with hematopoielie stem cell transplantation outcome:the number of mismatches at HLA-A, -B, -C, -DRBI, or -DQBI is strongly associated with overall survival. Biol Blood Marrow Transplant. 2007;13:965-974.

[8] 王大明,邹红岩,何柳媚,等.一例供者携带的C* 03:100等位基因的测序分析[J].国际输血及血液学杂志,2012,35(5):390-392.

[9] Cano P, Klitz W, Mack SJ, et al. Common and well-documented HLA alleles: report of the Ad-Hoc committee of the american society for histocompatiblity and immunogenetics. Hum Immunol. 2007;68:392-417.

[10] Kobayashi S, Kikuta A, Ito M, et al. Loss of mismatched HLA in myeloid/NK cell precursor acute leukemia relapse after T cell-replete haploidentical hematopoietic stem cell transplantation. Pediatric Blood Cancer. 2014;61(10): 1880-1882.

[11] 王大明,何柳媚,邹红岩,等. 4例人类白细胞抗原罕见等位基因的结果分析[J].中国组织工程研究,2013,17(44):7809-7814.

[12] Wang DM, Xu YP, Deng ZH. Identification of a novel HLA-C*01 variant allele, C*01:46. Tissue Antigens. 2011;78: 70-71.

[13] Saber W, Opie S, Rizzo JD, et al. Outcomes after matched unrelated donor versus identical sibling hematopoietic cell transplantation in adults with acute myelogenous leukemia. Blood. 2012;119(17):3908-3916.

[14] Spellman S, Klein J, Haagenson M, et al. Scoring HLA class I mismatches by HistoCheck does not predict clinical outcome in unrelated hematopoietic stem cell transplantation. Biol Blood Marrow Transplant. 2012;18(5):739-746.

[15] Askar M, Sobecks R, Morishima Y, et al. Predictions in the face of clinical reality:HistoCheck versus high-risk HLA allele mismatch combinations responsible for severe acute graft-versus-host disease. Biol Blood Marrow Transplant. 2011;17(9):1409-1415.

[16] Petersdorf EW, Malkki M, Horowitz MM, et al. Mapping MHC haplotype effects in unrelated donor hematopoietic cell transplantation. Blood. 2013;121(10):1896-1905.

[17] ratwohl A, Brand R, Niederwieser D, et al. Introduction of a quality management system and outcome after hematopoietic stem-cell transplantation. J Clin Oncol. 2011;29(15):1980-1986.

[18] Lee SJ, Klein J, Haagenson M, et al. High-resolution donor- recipient HLAmatching contributes to the success of unrelated donor marrow transplantation. Blood. 2007;110(13):4576-83.

[19] Arora M, Weisdorf D, Stephen R. HLA-identical sibling compared with 8/8 matched and mismatched unrelated donor bone marrow transplant for chronic phase chronic myeloid leukemia. J Clin Oncol. 2009;27:1644-1652.

[20] Shikari H, Amparo F, Saboo U, et al. Onset of ocular graft- versus-host disease symptoms after allogeneic hematopoietic stem cell transplantation. Cornea. 2015; 34(3):243-247.

[21] Zheng CC, Zhu XY, Tang BL, et al. Comparative analysis of unrelated cord blood transplantation and HLA-matched sibling hematopoietic stem cell transplantation in children with high-risk or advanced acute leukemia. Ann Hematol. 2015; 94(3):473-480.

[22] Remberger M, Beelen DW, Fauser A, et al. Increased risk of extensive chronic graft-versus-host disease after allogeneic peripheral blood stem cell transplantation using unrelated donors. Blood. 2005;105:548-551.

[23] 23. Morishima Y, Sasazuki T, Inoko H, et al. The clinical significance of human leukocyte antigen (HLA) allele compatibility in patients receiving a marrow transplant from serologically HLA-A, HLA-B, and HLA-DR matched unrelated donors. Blood. 2002;11(99):4200-4206.

[24] Greinix HT, Fae I, Schneider B, et al. Impact of HLA class I high-resolution mismatches on chronic graft-versus-host disease and survival of patients given hematopoietic stem cell grafts from unrelated donors. Bone Marrow Transplant. 2005;35:57-62.

[25] Weisdorf DJ, Anasetti C, Antin JH, et al. Allogeneic bone marrow transplantation for chronic myelogenous leukemia: Comparative analysis of unrelated versus matched sibling donor transplantation. Blood. 2002;99:1971-1977.

[26] Mohamed M. Immunology of hematopoietic stem cell transplantation. Immunol Invest. 2014;43(8):1-30

[27] Hladun R, Badell I, González M, et al. Survival analysis of hematopoietic stem cell transplantation in children with primary immunodeficiency in Spain. An Pediatr (Barc). 2014;82(2):62-67.

[28] Alois G, Helen B, Jakob P. Hematopoietic stem cell transplantation activity in Europe. Curr Opin Hematol. 2013;20(6):485-493.

[29] Marcelo A. Fernandez V, Wang T, et al. Identication of a permissible HLA mismatch in hematopoietic stem cell transplantation. Blood. 2014;123(8):1270-1278.

[30] Flomenberg N, Baxter-Lowe LA, Confer D, et al. Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associated with a strong adverse effect on transplantation outcome. Blood. 2004;104:1923-1930.

[31] Brunstein CG. Wanted: prospective studies of alternative donors. Biol Blood Marrow Transplant. 2015;21(6):957-958.

[32] Perusco A, Gamba C, Galarza P, et al. HLA antigenic and haplotype frequencies estimated in hematopoietic progenitor cell donors from Argentina. Transplant Proc. 2014;46(9):3064-3067.

[33] Gragert L, Eapen M, Williams E, et al. HLA match likelihoods for hematopoietic stem-cell grafts in the U.S. registry. N Engl J Med. 2014;371(4):339-348.

[34] Grubic Z, Burek Kamenaric M, et al. HLA-A, HLA-B and HLA-DRB1 allele and haplotype diversity among volunteer bone marrow donors from Croatia. Int J Immunogenet. 2014;41(3):211-221.

[35] Testi M, Andreani M, Locatelli F, et al. Influence of the HLA characteristics of Italian patients on donor search outcome in unrelated hematopoietic stem cell transplantation. Tissue Antigens. 2014;84(2):198-205.

[36] Gourraud PA, Balère ML, Faucher C, et al. HLA phenotypes of candidates for HSCT: comparing transplanted versus non-transplanted candidates, resulting in the predictive estimation of the probability to find a 10/10 HLA matched donor. Tissue Antigens. 2014;83(1):17-26.

[37] Bemer MJ, Sorror M, Sandmaier BM, et al. A pilot pharmacologic biomarker study in HLA-haploidentical hematopoietic cell transplant recipients. Cancer Chemother Pharmacol. 2013;72(3):607-618.

[38] Bäuerlein CA, Riedel SS, Baker J, et al. A diagnostic window for the treatment of acute graft-versus-host disease prior to visible clinical symptoms in a murine model. BMC Med. 2013; 11:134.

[39] Hombrink P, Hassan C, Kester MG, et al. Discovery of T cell epitopes implementing HLA-peptidomics into a reverse immunology approach. J Immunol. 2013;190(8):3869-3877.

[40] Grubic Z, Stingl K, Zunec R. Heterogeneity of HLA-DRB1*04 alleles and haplotypes in the Croatian population. Tissue Antigens. 2012;80(3):219-223.

[41] Thiel U, Wolf P, Wawer A, et al. Human leukocyte antigen distribution in German Caucasians with advanced Ewing's sarcoma. Klin Padiatr. 2012;224(6):353-358.

[42] Kuwatsuka Y, Kohno A, Terakura S, et al. Phase II study of dose-modified busulfan by real-time targeting in allogeneic hematopoietic stem cell transplantation for myeloid malignancy. Cancer Sci. 2012;103(9):1688-1694.

[43] Mori T, Kato J, Shimizu T, et al. Effect of early posttransplantation tacrolimus concentration on the development of acute graft-versus-host disease after allogeneic hematopoietic stem cell transplantation from unrelated donors. Biol Blood Marrow Transplant. 2012; 18(2):229-234.

[44] Sobecks RM, Askar M, Thomas D, et al. Cytomegalovirus reactivation after matched sibling donor reduced-intensity conditioning allogeneic hematopoietic stem cell transplant correlates with donor killer immunoglobulin-like receptor genotype. Exp Clin Transplant. 2011;9(1):7-13.

[45] Viswanathan C, Roy A, Damodaran D, et al. Optimization of the inventory size of the public cord blood program-the Indian context. J Assoc Physicians India. 2010;58:608-611.

[46] Rosenmayr A, Pointner-Prager M, Mitterschiffthaler A, et al. What are a patient's current chances of finding a matched unrelated donor? Twenty years' central search experience in a small country. Bone Marrow Transplant. 2012;47(2): 172-180.

[47] Kanda J, Lopez RD, Rizzieri DA. Alemtuzumab for the prevention and treatment of graft-versus-host disease. Int J Hematol. 2011;93(5):586-593.

[48] Testi M, Lai S, Orrù S, et al. Distribution of HLA alleles and haplotypes in the Maldivian population. Tissue Antigens. 2011;77(3):235-238.

[49] Balas A, García-Sánchez F, Vicario JL. Allelic and haplotypic HLA frequency distribution in Spanish hematopoietic patients. Implications for unrelated donor searching. Tissue Antigens. 2011;77(1):45-53.

[50] Willemze R, Ruggeri A, Purtill D, et al. Is there an impact of killer cell immunoglobulin-like receptors and KIR-ligand incompatibilities on outcomes after unrelated cord blood stem cell transplantation? Best Pract Res Clin Haematol. 2010; 23(2):283-290.