CAJ | 학술논문

目的序列分析及确认一例中国人群中的人类白细胞抗原(human leukocyte antigen,HLA)新等位基因.方法应用基于Luminex平台的聚合酶链反应-序列特异性寡核苷酸探针(PCR-SSOP)基因分型法、PCR产物测序法和组特异性引物测序法,通过软件分析该样本DNA基因序列及与最相近HLA等位基因序列的差异.结果 PCR-SSOP结果显示该样本HLA-A基因座的反应格局与已知HLA-A等位基因均不一致；DNA序列分析显示,在所检测的第2～4外显子中,该样本HLA-A基因座序列与所有已知HLA-A等位基因序列均不一致,与同源性最高的等位基因A*31∶01∶02的差异只在外显子2区域中产生了nt 245 A—C一个碱基取代,并导致相应的82位密码子由GAG→GCG,编码的氨基酸由谷氨酸(Glu)变为丙氨酸(Ala).结论该基因为HLA新等位基因,被世界卫生组织HLA因子命名委员会正式命名为HLA-A*31∶22.
목적 서렬분석급학인일례중국인군중적인류백세포항원(human leukocyte antigen,HLA)신등위기인.방법 응용기우Luminex평태적취합매련반응-서렬특이성과핵감산탐침(PCR-SSOP)기인분형법、PCR산물측서법화조특이성인물측서법,통과연건분석해양본DNA기인서렬급여최상근HLA등위기인서렬적차이.결과 PCR-SSOP결과현시해양본HLA-A기인좌적반응격국여이지HLA-A등위기인균불일치；DNA서렬분석현시,재소검측적제2～4외현자중,해양본HLA-A기인좌서렬여소유이지HLA-A등위기인서렬균불일치,여동원성최고적등위기인A*31∶01∶02적차이지재외현자2구역중산생료nt 245 A—C일개감기취대,병도치상응적82위밀마자유GAG→GCG,편마적안기산유곡안산(Glu)변위병안산(Ala).결론 해기인위HLA신등위기인,피세계위생조직HLA인자명명위원회정식명명위HLA-A*31∶22.
Objective To identify and confirm a novel HLA allele.Methods A new human leukocyte antigen A allele was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes(PCR-SSOP) and sequencing-based typing (SBT).HLA-A locus was amplified from exon 1 through exon 8,and the nucleotide sequence of exon 2 to exon 4 for HLA-A were sequenced in both directions.Results The novel HLA-A * 31 allele is identical to A * 31 ∶ 01 ∶ 02 with an exception of one base substitution at position 245 of exon 2 where an ' A' change to ' C' resulting in codon 82 changed from GAG to GCG.Conclusion A novel HLA allele,A * 31 ∶ 22,was identified,and was named officially by the WHO Nomenclature Committee for factors of the HLA system.