新等位基因HLA-B＊56：21的核苷酸序列分析  

Sequences analysis of a new HLA-B allele HLA.B ＊ 56：21

作　　者：李鑫[1] 丁镌[1] 侯玲[1] 刘杰[1] 

机构地区：[1]黑龙江省血液中心,黑龙江哈尔滨150056

出　　处：《中国输血杂志》2012年第10期1043-1045,共3页Chinese Journal of Blood Transfusion

摘　　要：目的确认HLA新等位基因HLA-B*56∶21并分析其有异常反应格局的核苷酸序列。方法标本DNA抽提采用美国Tiangen试剂盒,采用聚合酶链反应序列-特异寡核苷酸探针杂交技术(PCR-SSOP)进行HLA分型,发现1个与HLA-B*56相关的异常基因,使用DNA测序分型技术(PCR-SBT)直接测定其基因序列,并分析其与最接近的HLA-B*56∶05∶02和HLA-B*56∶07基因序列的差异。结果新基因与所有已知的HLA-B等位基因序列均不相同,与HLA-B*56∶05∶02基因序列相比在第2外显子有6个碱基发生替代,导致5个氨基酸发生改变;与HLA-B*56∶07相比,在第2外显子序列仅有2个碱基被替代,第3外显子序列有6个碱基被替代,也导致5个氨基酸发生改变。结论发现1个新的HLA-B等位基因,现已被世界卫生组织HLA因子命名委员会正式命名为HLA-B*56∶21,新等位基因HLA-B*56∶21与HLA-B*56∶05∶02、HLA-B*56∶07均有很高相似性。Objective To confirm the new allele HI_A-B＊ 56：21 and analyze the nucleotide sequence of the abnormal reaction pattern. Methods The sample DNA was extracted from whole blood by the U. S. Tiangen kit, find an abnormal gene associated with the HLA-B ＊ 56 using the PCR-SSOP for HLA typing,then direct determination of gene sequences using DNA sequencing based typing（SBT） and to analyze the differences with the closest HLA-B ＂56： 05：02 and HLA-B ＊ 56：07 gene sequences. Results The new allele is not the same with all known HIA-B allele sequence. The new allele show 6 nu- cleotide differences with the HLA-B ＊ 56： 05：02 gene sequences in exon 2 resulting in 5 amino acid changes ;but compared with the HI_A-B＊ 56：07 ,it only showes 2 nucleotide differences in exon2 sequences and showes 6 nueleotide differences in exon 3 sequence resulting in 5 amino acid changes, too. Conclusion The result suggestes that this allele is a new allele that it has now been officially named HLA-B ＊ 56：21 by the World Health Organization （WHO） HLA Nomenclature Com- mittee. The new allele HLA-B ＊ 56：21 has a high similarity with HIA-B ＊ 56： 05：02 and also has a high similarity with F/LA- B＊56：07.

关 键 词：基因分型 新等位基因 相似性 SBT 

分 类 号：R457.11[医药卫生—治疗学]