CAJ | 학술논문

目的鉴定中国人群中人类白细胞抗原(human leukocyte antigen,HLA)新等位基因HLA-B*9526,并进行核苷酸序列分析.方法使用序列特异性寡核苷酸PCR技术进行HLA基因分型,发现1个反应格局异常的等位基因,应用分子克隆和DNA双向测序技术测定新等位基因的核苷酸序列,并与已知等位基因进行序列比对分析.结果检出反应格局异常的DNA样本,经过克隆测序得到两个等位基因,分型结果一个为B*5403,另一个的核苷酸序列与已知的HLA等位基因均不同,该基因序列与同源性最高的HLA-B*1507基因序列相比在第3外显子区域中425位碱基发生A→G突变,导致142位编码氨基酸由酪氨酸变成半胱氨酸.结论一个新的HLA-B等位基因被确认,并被世界卫生组织HLA因子命名委员会正式命名为HLA-B*9526.
목적 감정중국인군중인류백세포항원(human leukocyte antigen,HLA)신등위기인HLA-B*9526,병진행핵감산서렬분석.방법 사용서렬특이성과핵감산PCR기술진행HLA기인분형,발현1개반응격국이상적등위기인,응용분자극륭화DNA쌍향측서기술측정신등위기인적핵감산서렬,병여이지등위기인진행서렬비대분석.결과 검출반응격국이상적DNA양본,경과극륭측서득도량개등위기인,분형결과일개위B*5403,령일개적핵감산서렬여이지적HLA등위기인균불동,해기인서렬여동원성최고적HLA-B*1507기인서렬상비재제3외현자구역중425위감기발생A→G돌변,도치142위편마안기산유락안산변성반광안산.결론 일개신적HLA-B등위기인피학인,병피세계위생조직HLA인자명명위원회정식명명위HLA-B*9526.
Objective A novel human leukocyte antigen-B(HLA-B)allele,B*9526,was identified and analyzed by sequencing based method in a Chinese donor.Methods HLA typing was performed by PCR-sequence specific oligonucleotide(SS0).Molecular cloning and DNA sequencing were used to identify the sequence of the potential novel allele and the difference between this new allele and other known alleles were analyzed.Results HLA genotyping of one sample gave different results.The sequencing result showed HLA-B alleles of the proband as B*5403 and a novel allele.The nucleotide sequence of the novel allele was different from all known B alleles and harbored one nucleotide change from the closest matching allele B* 1507 at nucleotide 425(A→G)in exon 3,resulting in an amino acid change from Y(TAC)to C(TGC)at codon 142.Conclusion A novel HLA allele was identified and officially designated as HLA-B*9526 by WHO Nomenclature Committee for Factors of the HLA System.