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

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.