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目的对在用ＰＣＲ／ＳＳＯ方法作我国彝族群体样本ＨＬＡＤ区寡核苷酸分型中发现的１例ＤＲＢ１的杂合子进行等位基因序列分析。方法用ＤＲＢ基因类引物扩增该特殊的ＤＲＢ１杂合子细胞基因组的ＤＲＢ基因的第二外显子。扩增产物经纯化转染大肠杆菌ＪＭ１０１，克隆后再经酚／氯仿抽提后得到单链Ｍ１３ＤＮＡ。利用ＡＢＩ３７７测序仪自动测序。结果彝族这一特殊的ＤＲＢ１杂合子细胞的ＤＲＢ１基因阳性克隆，经序列分析证实了该ＤＲＢ１杂合子中一个等位基因确为ＤＲＢ１＊１２０２，与ＰＣＲ／ＳＳＯ分型一致；另一个新等位基因ＤＲＢ１＊１５Ｙ２（暂定）等位基因在第二外显子的４７位由编码苯丙氨酸的ＴＴＣ（ＤＲＢ１＊１５０２）变为编码酪氨酸的ＴＡＣ。结论在云南彝族样本中发现的ＤＲＢ１＊１５Ｙ２，其４７位由ＴＡＣ（酪氨酸）置换了相应于ＤＲＢ１＊１５０２的ＴＴＣ（苯丙氨酸）。在我国这样一个多民族国家中，就ＨＬＡ系统而言，可能还有更多新等位基因有待鉴定。这样有助于完善群体遗传资料
OBJECTIVE: To analyze the allelic sequences of one DRB1 heterozygote found in the genotyping of HLAD by PCR / SSO. Methods DRB gene primers were used to amplify the second exon of the DRB gene of this particular DRB1 heterozygous cell genome. The amplified product was purified and transfected into Escherichia coli JM101. After cloning, the single-stranded M13 DNA was obtained after phenol / chloroform extraction. Automatic sequencing using ABI377 sequencer. Results Positive DRB1 gene clones of Yi, a special DRB1 heterozygous cell, were confirmed by sequence analysis. One allele of this DRB1 heterozygote was indeed DRB1 * 1202, which was consistent with PCR / SSO typing. Another new allele The DRB1 * 15Y2 (tentative) allele changes from TTC (phenylalanine-encoding TTC (DRB1 * 1502) to tyrosine-encoding TAC at position 47 of the second exon. Conclusions DRB1 * 15Y2 was found in the Yunnan Yi sample in which the 47th TTC (phenylalanine) corresponding to DRB1 * 1502 was replaced by TAC (tyrosine). In a multinational country like ours, there may be more new alleles to be identified in the HLA system. This will help refine the genetic information of the population