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目的 识别确认中国人群的HLA新等位基因。方法 使用PCR SSP以及以测序为基础的分型 (SBT)技术 ,在HLA分型常规工作中发现 1个与HLA A 110 2基因相关的新基因 ,以基因克隆及DNA测序 ,分析该基因和A 110 2基因序列的差异。结果 该基因和A 110 2基因序列的差异在于外显子 3区域中 ,5 2 4A >G ,5 2 6G>C以及 5 2 7C >G等 3个碱基的取代 ,使密码子 175由组氨酸变为精氨酸 ,密码子 176由丙氨酸变为精氨酸。结论该基因为HLA新等位基因 ,2 0 0 2年 9月已被世界卫生组织HLA因子命名委员会正式命名为HLA A 1114。用PCR SSP方法 ,在 30 0 0名随机造血干细胞供者中 ,未发现其他带有A 1114基因的个体。
Objective To identify and identify new HLA alleles in Chinese population. Methods Using PCR SSP and Sequencing-based Genotyping (SBT), we found a new gene related to HLA A 110 2 gene in the routine work of HLA typing. The gene and A 110 2 gene sequence differences. Results The difference between this gene and the A 110 2 gene sequence was that the 3 base substitutions of 5 2 4A> G, 5 2 6G> C and 5 2 7C> G in the exon 3 region resulted in the codon 175 being replaced by the group Arginine to Arginine, codon 176 from alanine to arginine. Conclusion This gene is a new allele of HLA. In September 2002, it was officially named as HLA A 1114 by the WHO Nomenclature Committee of Human Factors. Using the PCR SSP method, no other individuals with the A 1114 gene were found in 30 0 random hematopoietic stem cell donors.