新等位基因HLA-B^＊9537的确认和序列分析  

Identification and sequence analysis of a novel allele HLA-B^＊9537

作　　者：王东梅[1] 单小燕[1] 王立君[1] 何晓玫[1] 倪蕾[1] 崔爽[1] 王琳[1] 李伟[1] 刘娜[1] 赵波涛[1] 龚治尹[1] 张志欣[1] 宋长兴[2] 

机构地区：[1]北京市红十字血液中心,北京100088 [2]北京市结核病胸部肿瘤研究所

出　　处：《中国输血杂志》2009年第6期453-455,共3页Chinese Journal of Blood Transfusion

摘　　要：目的识别并确认1个新的HLA等位基因。方法应用PCR-SSO,PCR-SSP基因分型技术对1份临床样本做HLA分型,对可能的HLA新等位基因进行分子克隆和DNA测序,分析与最同源的B*1504的差异。结果得到1份样本的序列与已知的所有HLA-B等位基因序列不一致,与B*1504的差异表现在第3外显子区域中的379G>C,409C>T,412G>A,419C>T,导致氨基酸分别由谷氨酸→天冬氨酸(E103D),苏氨酸→赖氨酸(T113K),谷氨酰胺→谷氨酸(Q114E)和丝氨酸→苯氨酸(S116F)。结论该基因为HLA-B位点的1个新等位基因。Objective To identify a novel HLA-B allele of a Chinese. Methods An ambiguous result was found during routine SSO and PCR-SSP typing, and molecular cloning and DNA sequence analysis were further conducted. Results The sequence of this new allele indicated that it differed from the closet matching allele B^＊ 1504 in 4 nucleotide substitutions, i.e. 379 G 〉 C ,409 C 〉 T,412 G 〉 A, and 419 C 〉 T in Exon3 ,resulting in 4 amino acid changed from Glu to Asp （E103D） ,Thr to Lys（T113K） ,Gln to Glu（Q114E） and Ser to Phe（ S116F）, respectively. Conclusion The novel allele was identified, and was assigned the name B ^＊ 9537 officially by the WHO Nomenclature Committee.

关 键 词：HLA HLA-B^＊9537 新等位基因 PCR-SSO SBT序列分析 

分 类 号：R457.11[医药卫生—治疗学] Q523.8[医药卫生—临床医学]