CAJ | 학술논문

目的序列分析及确定1个HLA新等位基因.方法应用基于Luminex平台的聚合酶链式反应-序列特异性寡核苷酸探针(polymerase chain reaction- sequence specific oligonucleotide probes,PCR-SSOP)基因分型方法、PCR产物测序和基因克隆测序方法,通过软件分析该基因序列及与最相近等位基因的序列差异.结果 PCR-SSOP结果显示,该样品HLA-Ⅰ类基因B位点反应格局出现异常提示；测序结果最终表明其B位点第3外显子序列与所有已知HLA-B等位基因序列均不一致,在所检测的外显子第2、3、4区域中,与序列最相近的等位基因HLA-B* 52:01:01的差异只是在第3外显子产生了nt 583 C→T一个核苷酸替代,并导致相应的195位密码子由CAC(H)→TAC(Y),氨基酸组成由组氨酸变为酪氨酸.结论经序列分析1个HLA-Ⅰ类基因的新等位基因被确认,已被世界卫生组织HLA因子命名委员会正式命名为HLA-B* 52:11.
목적 서렬분석급학정1개HLA신등위기인.방법 응용기우Luminex평태적취합매련식반응-서렬특이성과핵감산탐침(polymerase chain reaction- sequence specific oligonucleotide probes,PCR-SSOP)기인분형방법、PCR산물측서화기인극륭측서방법,통과연건분석해기인서렬급여최상근등위기인적서렬차이.결과 PCR-SSOP결과현시,해양품HLA-Ⅰ류기인B위점반응격국출현이상제시；측서결과최종표명기B위점제3외현자서렬여소유이지HLA-B등위기인서렬균불일치,재소검측적외현자제2、3、4구역중,여서렬최상근적등위기인HLA-B* 52:01:01적차이지시재제3외현자산생료nt 583 C→T일개핵감산체대,병도치상응적195위밀마자유CAC(H)→TAC(Y),안기산조성유조안산변위락안산.결론 경서렬분석1개HLA-Ⅰ류기인적신등위기인피학인,이피세계위생조직HLA인자명명위원회정식명명위HLA-B* 52:11.
Objective To identify and confirm a novel HLA allele.Methods A new human leukocyte antigen class Ⅰ allele was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes(PCR-SSOP) and sequencing-based typing (SBT).Results The novel HLA-B * 52 allele was identical to B * 52:01:01 with an exception of one base substitution at position 583 of exon 3 where a ‘C' was changed to ‘T' resulting in codon 195 changed from CAC(H) to TAC(Y).Conclusion A new HLA class Ⅰ allele,B * 52:11,is identified,and is named officially by the WHO Nomenclature Committee.