【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,已被WHOHLA因子命名委员会正式命名为HLA-B*9537更多还原

【Abstract】 Objective To identify a novel HLA-Ballele of a Chinese.Methods An ambiguous result was found dur-ing 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 substitu-tions,i.e. 379 G>C ,409 C >T,412 G>A,and 419 C >Tin 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 allelewas identified,and was assigned the name B*9537 officially by the WHO Nomenclature Committee.更多还原