Sequence analysis and identification of a new allele HLA-DRB1*12:02:10

doi:10.12307/2022.766

Abstract

Abstract: BACKGROUND: The essence of the individual genetic differences of human leukocyte antigen (HLA) is the new alleles generated under various inducing factors at the level of genes encoding its antigen products, the frequency distribution in the population, and the blood type of the antigen. Serological testing and biological functions need to be further studied.
OBJECTIVE: The identification and sequence analysis of a new HLA allele HLA-DRB1*12:02:10.
METHODS: The polymerase chain reaction-sequence-based typing, single-strand sequencing, and nex-generation sequencing were used to identify the HLA-DRB1 non-matched transplant match samples. The control experiment was performed by polymerase chain reaction-sequence specific oligonucleotide probe.
RESULTS AND CONCLUSION: (1) The HLA-DRB1 had T>G; a base mutation in Exon 3 at position 582, which caused the 194 codon of Exon 3 to be changed by CCT>CCG, which was a synonym mutation without any change of amino acid. (2) The new HLA-DRB1 allele was identified and named HLA-DRB1*12:02:10 by the World Health Organization HLA Factor Nomenclature Committee.

Key words: human leukocyte antigen, sequencing, novel allele, genealogical investigation, confirmed, naming

CLC Number:

Wu Junhua, Wang Tianju, Wang Manni, Xu Hua, Qi Jun, Shang Lixia, Chen Le. Sequence analysis and identification of a new allele HLA-DRB1*12:02:10[J]. Chinese Journal of Tissue Engineering Research, 2022, 26(30): 4857-4861.

Figures/Tables 5

References

[1] 谭建明,周永昌,唐孝达,等.组织配型技术与临床应用[M].北京:人民卫生出版社,2002:12.
[2] 王天菊,陈利萍,王小芳,等.HLA新等位基因HLA-B*67:07测序分析及确认[J].血型与临床,2017,19(5):482-486.
[3] 齐珺,王天菊,陈乐,等.HLA-DRB1,-DQB1,-DPB1 等位基因及单体型多态性与北方汉族急性髓系白血病(非M3型)的关联性研究[J].中国输血杂志,2021,34(2):101-106.
[4] ZHOU F, CAO H, ZUO X, et al. Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease. Nat Genet. 2016;48(7):740-746.
[5] 刘孟黎,齐珺,张艳,等.陕西地区造血干细胞捐献者人类白细胞抗原-A、B、DRB1基因多态性分析[J].中华医学杂志,2006,86(42): 2971-2974.
[6] 戚勤,黄永坤,文革生,等.昆明汉族人群HLA-DRB1、DQB1基因多态性分析[J].昆明医学院学报,2006,27(5):26-31.
[7] 冯明亮,杨建豪,季芸,等.江浙沪汉族人群HLA-DRB1基因座遗传特征及不同人群频率分布比较[J].中华医学遗传学杂志,2003,20(4): 365-367.
[8] 谢毓滨,王赤林,李双,等.湖南地区人群HLA-DRB1基因多态性的研究[J].实用预防医学,2006,13(6):1436-1438.
[9] 全星,龚茜.广东汉族人群 HLA-DRB1 基因多态性分布[J].广州医药, 2012,43(1):54-56.
[10] 邵林楠,张树婷,段莹,等.大连地区汉族人群HLA-A、HLA-B、 -DRBl位点基因多态性研究[J].中国免疫学杂志,2018,34(6):919-924.
[11] 王琼,姚宇峰,史荔,等.云南大理白族HLA-DRB1、-DQB1等位基因多态性分析[J].中国免疫学杂志,2009,25(12):1088-1091.
[12] 丁扬,卢珊,马向华,等.HLA 基因多态性与多种血液系统疾病相关性的研究进展[J].细胞与分子免疫学杂志,2011,27(12):1378-1381.
[13] 齐珺,王天菊,陈利萍,等.HLA高分辨等位基因及单体型多态性与北方汉族髓系白血病的关联性研究[J].中国实验血液学杂志,2018, 26(1):32-41.
[14] HOLOSHITZ J. The quest for better understanding of HLA-disease association: scenes from a road less travelled by. Discov Med. 2013; 16(87):93-101.
[15] YIN L, DAI S, CLAYTON G, et al. Recognition of self and altered self by T cells in autoimmunity and allergy. Protein Cell. 2013;4(1):8-16.
[16] NEPOM GT, KWOK WW. Molecular basis for HLA-DQ associations with IDDM. Diabetes. 1998;47(8):1177-1184.
[17] OLDSTONE MB. Molecular mimicry and immune-mediated diseases. FASEB J. 1998;12(13):1255-1265.
[18] 潘斌,李伟毅.HLA多态性与疾病机制关联的研究进展[J].细胞与分子免疫学杂志,2011,27(10): 1157-1160.
[19] RANI R, MUKHERJEE R, STASTNY P. Diversity of HLA-DR2 in North Indians: the changed scenario after the discovery of DRB1*1506. Tissue Antigens. 1998;52(2):147-152.
[20] 祐红瑞,江河清,余祖江.河南地区汉族人群乙肝后肝硬化遗传易感性与HLA-DRB1等位基因相关性的研究[J].中原医刊,2006,33(9): 1-3.
[21] 张淑云,李迪,谷鸿喜,等.HBV感染者人类白细胞 I, II 类抗原等位基因多态性分析[J].世界华人消化杂志,2006,14(10):963-968.
[22] 魏林珍,王海琳,录亚鹏,等.中国人群HLA-DRB1基因多态性与宫颈癌易感性的Meta分析[J].实用预防医学,2014,21(3):264-267.
[23] ANAGNOSTOULI M, ANAGNOSTOULIS G, KATSAVOS S, et al. HLA-DRB1 15:01 and Epstein-Barr virus in a multiple sclerosis patient with psoriasis, nasopharyngeal and breast cancers. Lessons for possible hidden links for autoimmunity and cancer. J Neurol Sci. 2014;339(1-2): 26-31.
[24] 王红美,沈柏均,阎文瑛,等.人类白细胞抗原DRBI等位基因与儿童特发性血小板减少性紫癜的相关性研究[J].中华医学遗传学杂志,2002,19(4):290-293.
[25] TAN CW, TAN-KOI WC, NG J, et al. A cluster of Epoetin-associated pure red cell aplasia: clinical features and the possible association of HLA-DRB1*12:02. Pharmacogenomics. 2016;17(11):1235-1243.
[26] LIU B, XIONG L, TIAN C, et al. HLA-DRB1*12:02:01 plays a protective role against coronary artery disease in women of southern Han Chinese descent. Hum Immunol. 2012;73(1):122-126.