CAJ | 학술논문

目的对人类白细胞抗原(human leukocyte antigen,HLA)新等位基因HLA-B*15:129的第2～4外显子序列进行分析.方法采用商用抽提试剂盒抽提标本DNA,应用等位基因组特异性引物PCR方法扩增先证者标本HLA-B基因第2～4外显子,PCR产物经酶切纯化后直接进行HLA-B基因第2～4外显子双向测序分析.结果先证者标本存在2个HLA-B等位基因,1个等位基因为B*07:02,另1个经Blast验证为新的等位基因,新的等位基因序列已递交GenBank(EF473219),经世界卫生组织HLA命名委员会正式命名为HLA-B*15:129.HLA-B*15:129第2～4外显子序列与最接近的B*15:01:01:01相比,第3外显子存在3个碱基的不同,即第362位G→A、363位G→T、369位C→T改变,导致第97位氨基酸Arg→Asn.结论发现1例新的HLA-B等位基因,被世界卫生组织HLA基因命名委员会正式命名为HLA-B*15:129.
목적 대인류백세포항원(human leukocyte antigen,HLA)신등위기인HLA-B*15:129적제2～4외현자서렬진행분석.방법 채용상용추제시제합추제표본DNA,응용등위기인조특이성인물PCR방법확증선증자표본HLA-B기인제2～4외현자,PCR산물경매절순화후직접진행HLA-B기인제2～4외현자쌍향측서분석.결과 선증자표본존재2개HLA-B등위기인,1개등위기인위B*07:02,령1개경Blast험증위신적등위기인,신적등위기인서렬이체교GenBank(EF473219),경세계위생조직HLA명명위원회정식명명위HLA-B*15:129.HLA-B*15:129제2～4외현자서렬여최접근적B*15:01:01:01상비,제3외현자존재3개감기적불동,즉제362위G→A、363위G→T、369위C→T개변,도치제97위안기산Arg→Asn.결론 발현1례신적HLA-B등위기인,피세계위생조직HLA기인명명위원회정식명명위HLA-B*15:129.
Objective To analyze the sequence of the exons 2-4 of human leukocyte antigen (HLA) novel allele HLA-B*15:129.Methods DNA of the proband was extracted from whole blood by commercial DNA extraction kit. The amplification for HLA-B exons 2-4 was performed separately by polymerase chain reaction (PCR) with allele group specific primers. The PCR products were digested with enzymes and then directly sequenced for exons 2-4 of HLA-B locus in both directions.Results Sequencing results showed the HLA-B alleles of the proband included B*07:02 and a novel allele. The sequence of the novel allele has been submitted to GenBank (accession no. EF473219) and the allele has been officially named B*15:129 by the WHO Nomenclature Committee. Comparing with the HLA-B*15:01:01:01, the sequence of exons 2-4 of HLA-B*15:129 showed three nucleotide difference in exon 3 at positions 362 and 363 from GG to AT and positions 369 from C to T, which resulted in an amino acid change from Arg to Asn at codon 97.Conclusion A novel HLA-B allele was identified and has been officially named B15:129 by the WHO Nomenclature Committee.