摘要
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 HLA novel allele in Chinese population.Methods A new HLA A allele was initially detected by an unusual PCR SSP reaction pattern and an ambiguous sequence based typing(SBT)result in a Chinese family.Molecular cloning and sequencing were used to identify the difference between the new allele and HLA A *1102 allele.Results This new allele was identical to HLA A *1102 allele in exon 2 and exon 3 except for three nucleotide substitutions of 524 A>G,526 G>C,and 527 C>G in exon 3,resulting in the changes of codon 175 from His to Arg(CAT→CGT)and codon 176 from Ala to Arg(GCG→CGG).Conclusion This allele is a novel HLA A allele,and has been officially assigned the name A *1114 by the WHO Nomenclature Committee in September 2002.No further individuals of A *1114 have been found in about 3000 Chinese hematopoietic stem cell donors by PCR SSP based method.
出处
《中国输血杂志》
CAS
CSCD
2002年第5期301-303,共3页
Chinese Journal of Blood Transfusion
