测序确定人类白细胞抗原新等位基因DRB1*1461
측서학정인류백세포항원신등위기인DRB1*1461
To identify a novel HLA-DRB1 allele in Chinese by sequencing
  • 万方数据
    中华医学遗传学杂志 중화의학유전학잡지
    CHINESE JOURNAL OF MEDICAL GENETICS
    2010年 3期 333-334 ,共2页

    李伟%单小燕%刘娜%倪雷%王丽君%王琳%崔爽%何晓玫%龚治尹%赵波涛%张志欣

    리위%단소연%류나%예뢰%왕려군%왕림%최상%하효매%공치윤%조파도%장지흔

    等位基因%人类自细胞抗原DRB1*1461%聚合酶链反应-序列分型 等位基因%人類自細胞抗原DRB1*1461%聚閤酶鏈反應-序列分型
    등위기인%인류자세포항원DRB1*1461%취합매련반응-서렬분형
    allele%human leukocyte antigen-DRBl * 1461%polymerase chain reaction sequence-based typing
    目的 确定HLA-DR位点的一个新等位基因.方法 应用聚合酶链反应-序列分型(polymerase chain reaction sequence-based typing,PCR-SBT)方法对1例白血病患者HLA-DR位点进行基因分型.结果 新等位基因碱基序列与已知的HLA-DR位点的等位基因都不相同,同源性最高是HLA-DRBl*1404,只有1个碱基的差别,以第2外显子第1位为起点,第33位T→C,17位密码子编码的氨基酸由酪氨酸(Tyr)变为组氨酸(His).结论 该等位基因为HLA-DR位点新等位基因,2006年5月被世界卫生组织命名委员会正式命名HLA-DRB1*1461.
    목적 학정HLA-DR위점적일개신등위기인.방법 응용취합매련반응-서렬분형(polymerase chain reaction sequence-based typing,PCR-SBT)방법대1례백혈병환자HLA-DR위점진행기인분형.결과 신등위기인감기서렬여이지적HLA-DR위점적등위기인도불상동,동원성최고시HLA-DRBl*1404,지유1개감기적차별,이제2외현자제1위위기점,제33위T→C,17위밀마자편마적안기산유락안산(Tyr)변위조안산(His).결론 해등위기인위HLA-DR위점신등위기인,2006년5월피세계위생조직명명위원회정식명명HLA-DRB1*1461.
    Objective To identify a novel HLA-DRB1 allele in Chinese. Methods A novel HLA-DR allele was detected by PCR-SSP and SBT in a patient with leukemia. Results The sequence of the novel allele was different from all other known alleles. The novel allele differed from the closet matching allele HLA-DRB1 * 1404 by one nucleotide substitution in exon 2,at position 33 T→C,this resulted in an anmino acid change from Tyr to His at codon 17. Conclusion The novel allele is confirmed as a new HLA allel and it was officially named HLA-DRB1 * 1461 by WHO Nomenclature Committee in May,2006.
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