中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
1期
91-94
,共4页
章旭%蒋术一%李晓丰%张坤莲%陈阳%刘显智%李剑平
章旭%蔣術一%李曉豐%張坤蓮%陳暘%劉顯智%李劍平
장욱%장술일%리효봉%장곤련%진양%류현지%리검평
人类白细胞抗原%新等位基因%序列分析
人類白細胞抗原%新等位基因%序列分析
인류백세포항원%신등위기인%서렬분석
Human leukocyte antigen%Novel allele%Sequence analysis
目的 鉴定1名中国人白细胞抗原(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(polymerase chain reaction-sequence specific oligonucleotide probes,PCR-SSOP)方法对先证者进行HLA基因分型、PCR产物测序和基因克隆DNA测序,通过软件分析该基因序列并与同源性最高的HLA等位基因比较序列差异.结果 PCR-SSOP基因分型显示先证者HLA-B位点反应格局异常,疑为HLA新等位基因.基因克隆后测序结果显示,其中1个等位基因为B*59:01,另一个等位基因序列与所有已知HLA等位基因不同,与同源性最高的HLA-B* 54:06基因序列相比,在第3外显子有6个核苷酸不同(nt486G→C、nt527A→T、nt538T→C、nt539G→T、nt559 C→A和nt560 T→C),导致了3个氨基酸改变,152位氨基酸由Glu→Val,156位氨基酸Trp→Leu和163位氨基酸Leu→Thr.结论 该等位基因为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-B* 54:09.
目的 鑒定1名中國人白細胞抗原(human leukocyte antigen,HLA)新等位基因.方法 應用基于Luminex平檯的聚閤酶鏈反應-序列特異性寡覈苷痠探針(polymerase chain reaction-sequence specific oligonucleotide probes,PCR-SSOP)方法對先證者進行HLA基因分型、PCR產物測序和基因剋隆DNA測序,通過軟件分析該基因序列併與同源性最高的HLA等位基因比較序列差異.結果 PCR-SSOP基因分型顯示先證者HLA-B位點反應格跼異常,疑為HLA新等位基因.基因剋隆後測序結果顯示,其中1箇等位基因為B*59:01,另一箇等位基因序列與所有已知HLA等位基因不同,與同源性最高的HLA-B* 54:06基因序列相比,在第3外顯子有6箇覈苷痠不同(nt486G→C、nt527A→T、nt538T→C、nt539G→T、nt559 C→A和nt560 T→C),導緻瞭3箇氨基痠改變,152位氨基痠由Glu→Val,156位氨基痠Trp→Leu和163位氨基痠Leu→Thr.結論 該等位基因為HLA新等位基因,被世界衛生組織HLA因子命名委員會正式命名為HLA-B* 54:09.
목적 감정1명중국인백세포항원(human leukocyte antigen,HLA)신등위기인.방법 응용기우Luminex평태적취합매련반응-서렬특이성과핵감산탐침(polymerase chain reaction-sequence specific oligonucleotide probes,PCR-SSOP)방법대선증자진행HLA기인분형、PCR산물측서화기인극륭DNA측서,통과연건분석해기인서렬병여동원성최고적HLA등위기인비교서렬차이.결과 PCR-SSOP기인분형현시선증자HLA-B위점반응격국이상,의위HLA신등위기인.기인극륭후측서결과현시,기중1개등위기인위B*59:01,령일개등위기인서렬여소유이지HLA등위기인불동,여동원성최고적HLA-B* 54:06기인서렬상비,재제3외현자유6개핵감산불동(nt486G→C、nt527A→T、nt538T→C、nt539G→T、nt559 C→A화nt560 T→C),도치료3개안기산개변,152위안기산유Glu→Val,156위안기산Trp→Leu화163위안기산Leu→Thr.결론 해등위기인위HLA신등위기인,피세계위생조직HLA인자명명위원회정식명명위HLA-B* 54:09.
Objective To identify a novel human leukocyte antigen (HLA) allele in Chinese population. Methods HLA typing was carried out with polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP).The HLA-B exons 1 7 of the proband were amplified and the product was cloned using a TOPO TA cloning sequencing kit to separate the two alleles.Both strands of exons 2 and 3 of selected colonies were sequenced.Sequence-based typing (SBT) was used to identify and analyze the difference between the new allele and the closest matching HLA-B allele.Results HLA typing indicated a SSOP pattern which did not match with known HLA-B alleles.The results of the sequencing suggested the HLA-B alleles of the proband as B * 59:01 and a novel allele.The HLA-B exon 3 sequence of the novel allele was different from any known alleles.This allele differs from the closest matching B * 54:06 allele by 6 nucleotides,which included nt486 (G→C),nt527 (A→T),nt538 (T→C),nt539 (G→T),nt559 (C→A) and nt560 (T→C) in exon 3,resulting in substitutions of three amino acids including Glu to Val at codon 152,Trp to Leu at codon 156 and Leu to Thr at codon 163.Conclusion A novel HLA-B allele has been identified and has been designated as HLAB * 54:09 by WHO Nomenclature Committee for Factors of the HLA System.
