关键词: 人类白细胞抗原, 人类白细胞抗原-DPA1位点, 测序分型, 分子克隆和单倍体测序, 汉族人群, 氨基酸, 谷氨酰胺, 精氨酸, 等位基因, 外周血样本

Abstract:

BACKGROUND: In population genetics research, an abnormal loci result of human leukocyte antigen-DPA1 sample was found, while the international reports on the human leukocyte antigen-DPA1 allele are rare.
OBJECTIVE: To identify a novel human leukocyte antigen-DPA1*01 variant allele in a Chinese Han individual.
METHODS: Sequencing based typing at exon 2 of human leukocyte antigen-APA1 gene in both directions was used in our population genetics study. Samples with in-conclusive results were subjected to molecular cloning and haplotype sequencing.
RESULTS AND CONCLUSION: An abnormal loci result of human leukocyte antigen-DPA1 sample was found, and a sample with in-conclusive result in sequencing based typing test subjected to cloning and haplotype sequencing, one normal HLA-DPA1*01:03 allele and a novel DPA1*01 variant allele were identified. The novel DPA1*01 variant allele differs from the closest allele DPA1*01:03 by single nucleotide change at coding sequence nt242 A>G in exon 2, and leading to the corresponding 50 codons CAA> CGA, thus resulted in encoded amino acid residues changed from glutamine into arginine. The identified novel DPA1*01 variant allele has been officially designated as human leukocyte antigen-DPA1*01:11 by World Health Organization Nomenclature Committee for Factors of Human Leukocyte Antigen System (Submit serial number: HWS10015443).