CAJ | 학술논문

背景:在群体遗传学研究中,发现一个样本人类白细胞抗原-DPA1位点结果异常,而国际上与人类白细胞抗原-DPA1等位基因相关的报道较少.目的:鉴定一个人类白细胞抗原-DPA1*01相关的新变异等位基因.方法:在群体遗传学研究中,采用 PCR 产物直接测序分型方法,对人类白细胞抗原-DPA1基因第2外显子进行双向测序.对出现异常分型结果的样本,进行分子克隆和单倍体测序.结果与结论:发现一个样本的人类白细胞抗原-DPA1位点结果异常,经分子克隆和单倍体测序,检出了一个正常的人类白细胞抗原-DPA1*01:03和一个 DPA1*01相关的新变异等位基因,该新等位基因的序列与 DPA1*01:03的序列最接近,其差异是在第二外显子区域的242位碱基发生 A>G 的替换,并导致了相应的第50位密码子由 CAA>CGA,编码的氨基酸残基由谷氨酰胺变成精氨酸.该等位基因为人类白细胞抗原新的等位基因,已被世界卫生组织人类白细胞抗原因子命名委员会正式命名为人类白细胞抗原-DPA1*01:11(提交序列号 HWS10015443).
배경:재군체유전학연구중,발현일개양본인류백세포항원-DPA1위점결과이상,이국제상여인류백세포항원-DPA1등위기인상관적보도교소.목적:감정일개인류백세포항원-DPA1*01상관적신변이등위기인.방법:재군체유전학연구중,채용 PCR 산물직접측서분형방법,대인류백세포항원-DPA1기인제2외현자진행쌍향측서.대출현이상분형결과적양본,진행분자극륭화단배체측서.결과여결론:발현일개양본적인류백세포항원-DPA1위점결과이상,경분자극륭화단배체측서,검출료일개정상적인류백세포항원-DPA1*01:03화일개 DPA1*01상관적신변이등위기인,해신등위기인적서렬여 DPA1*01:03적서렬최접근,기차이시재제이외현자구역적242위감기발생 A>G 적체환,병도치료상응적제50위밀마자유 CAA>CGA,편마적안기산잔기유곡안선알변성정안산.해등위기인위인류백세포항원신적등위기인,이피세계위생조직인류백세포항원인자명명위원회정식명명위인류백세포항원-DPA1*01:11(제교서렬호 HWS10015443).
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 al ele are rare. OBJECTIVE: To identify a novel human leukocyte antigen-DPA1*01 variant al ele 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 al ele and a novel DPA1*01 variant al ele were identified. The novel DPA1*01 variant al ele differs from the closest al ele 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 al ele has been official y 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).