CAJ | 학술논문

目的识别和鉴定HLA新等位基因B*4086,调查分析该基因的遗传情况.方法应用聚合酶反应-序列特异性寡核苷酸探针(PCR-sequence specific oligonucleotide primer,PCR-SSOP)技术对中华骨髓库志愿捐献者血样进行HLA分型,发现1例HLA-B疑似新等位基因,用DNA测序技术鉴定新等位基因并对该基因的携带者进行家系调查.结果经DNA测序确定为HLA新基因序列,该基因与 HLA-B*40060101相比,第3外显子419位碱基由A→T,导致相应的140位密码子编码的氨基酸由酪氨酸(Tyr)→苯丙氨酸(Phe).家系分析表明该新基因来自携带者母亲一方.结论 DNA测序表明被测样本含有HLA-B新等位基因,于2008年2月被世界卫生组织HLA因子命名委员会正式命名为HLA-B*4086,该新基因遗传于先证者母亲.
목적 식별화감정HLA신등위기인B*4086,조사분석해기인적유전정황.방법 응용취합매반응-서렬특이성과핵감산탐침(PCR-sequence specific oligonucleotide primer,PCR-SSOP)기술대중화골수고지원연헌자혈양진행HLA분형,발현1례HLA-B의사신등위기인,용DNA측서기술감정신등위기인병대해기인적휴대자진행가계조사.결과 경DNA측서학정위HLA신기인서렬,해기인여 HLA-B*40060101상비,제3외현자419위감기유A→T,도치상응적140위밀마자편마적안기산유락안산(Tyr)→분병안산(Phe).가계분석표명해신기인래자휴대자모친일방.결론 DNA측서표명피측양본함유HLA-B신등위기인,우2008년2월피세계위생조직HLA인자명명위원회정식명명위HLA-B*4086,해신기인유전우선증자모친.
Objective To identify a novel HLA allele, HLA-B*4086, in Chinese population and to investigate its pedigree. Methods An exceptional reaction pattern was detected in routine HLA typing of a CMDP (China Marrow Donor Programme) sample by PCR-sequence specific oligonucleotide primer (PCR-SSOP) assay. A new HLA-B allele was confirmed by sequence-based typing. Then family investigation was performed. Results DNA sequencing confirmed a new HLA allele. Compared with the closest macthing allele HLA-B*40060101, the novel allele has a difference at nt419 (A→T) in exon 3, which resulted in an amino acid change from Tyr to Phe at codon 140. Family investigation indicated the new allele derives from mother of the carrier. Conclusions One novel HLA allele was confirmed by sequencing based typing and it had been designated as HLA-B*4086 by the WHO Nomenclature Committee. This novel allele was inherited from mother of the carrier.