CAJ | 학술논문

目的鉴定人类白细胞抗原(human leukocyte antigen,HLA)基因B位点的1个新等位基因并调查其遗传情况.方法应用聚合酶链反应-序列特异性寡核苷酸探针(polymerase chain reactionsequence specific oligonucleotide probe,PCR-SSOP) HLA分型技术发现1个疑似的新HLA等位基因,通过DNA测序鉴定其序列,并与同源性最高的HLA基因进行核苷酸序列比对,对携带者家系进行调查.结果应用PCR-SSOP进行HLA基因分型时,该样本HLA-B位点反应格局异常.DNA序列分析证实其为1个新HLA-B等位基因.与同源性最高的等位基因B*55:02比较,在第2外显子区域中有7个碱基发生改变,导致6个密码子发生了变化,造成2个氨基酸改变,即第69位的氨基酸由谷氨酸(Glu)变为甲硫氨酸(Met)、第70位的氨基酸由谷氨酸(Glu)变为丙氨酸(Ala).结论发现并鉴定了HLA-B位点的1个新等位基因,GenBank注册号为FJ898284,被世界卫生组织HLA因子命名委员会正式命名为HLA-B* 55:35.
목적 감정인류백세포항원(human leukocyte antigen,HLA)기인B위점적1개신등위기인병조사기유전정황.방법 응용취합매련반응-서렬특이성과핵감산탐침(polymerase chain reactionsequence specific oligonucleotide probe,PCR-SSOP) HLA분형기술발현1개의사적신HLA등위기인,통과DNA측서감정기서렬,병여동원성최고적HLA기인진행핵감산서렬비대,대휴대자가계진행조사.결과응용PCR-SSOP진행HLA기인분형시,해양본HLA-B위점반응격국이상.DNA서렬분석증실기위1개신HLA-B등위기인.여동원성최고적등위기인B*55:02비교,재제2외현자구역중유7개감기발생개변,도치6개밀마자발생료변화,조성2개안기산개변,즉제69위적안기산유곡안산(Glu)변위갑류안산(Met)、제70위적안기산유곡안산(Glu)변위병안산(Ala).결론 발현병감정료HLA-B위점적1개신등위기인,GenBank주책호위FJ898284,피세계위생조직HLA인자명명위원회정식명명위HLA-B* 55:35.
Objective To identify a novel human leukocyte antigen (HLA) B allele and explore its family heritage.Methods A novel HLA allele was suspected upon routine HLA typing using a polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) assay.The sequence was confirmed with DNA sequencing and compared with its closest matching allele,B * 55∶ 02.The family was also investigated.Results An unusual reaction pattern was detected during routine HLA typing.The sequence was confirmed to be a new HLA-B allele,which differed from the closest matching allele,B * 55∶02,in 7 nt positions in exon 2.Among the 7 mutations from 6 codons,there were two amino acids changes including 69Glu→Met and 70Glu→Ala.Conclusion A novel HLA-B allele has been identified and officially named as B* 55:35 by the WHO Nomenclature Committee for Factors of the HLA System (GenBank accession number FJ898284).