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目的 分析类孟买型个体FUT1和FUT2基因座位的点突变情况.方法 通过常规血清学方法确定研究对象的红细胞表型,用聚合酶链反应(PCR)扩增FUT1基因和FUT2基因,产物纯化后直接测序,分别与参比序列GenBankM35531(FUT1)、GenBankU17894(FUT2)比对.结果 待研究个体的血清学表型为类孟买Ah-分泌型.基因分析显示,在FUT1座位的nt880-882的3个T缺失2个,致编码区294位发生读码框移位而提前形成终止密码,影响到控制膜抗原的a2-岩藻糖转移酶的活性,使血清学表型表现出H缺陷;FUT2座位的nt357发生同义突变(C→T),编码的天冬酰胺没有变化,nt385A为野生型,没有影响到体液中H物质的表达.结论 FUT1座位编码区nt880-882的TT缺失是本例类孟买型的分子生物学基础.“,”Objective To investigate the molecular feature at Locus FUT1 and FUT2 of the Para-Bombay phenotype individual. Methods Routine serological techniques were used to idendify Para-Bombay phenotype. The polymerase chain reaction(PCR) technique was used to amplify the FUT1 and FUT2 genes,and the PCR-producta were sequenced directly by AB13100. The sequence was compared with the reference data:GenBankM35531(FUT1),GenBankU17894(FUT2). Results The individual was confirmed as Para-Bombay phenotype by serologic methods. The sequencing result revealed that two Ts deletion among the three at nt880-882 at the locus FUT1 ,which caused the reading frame shift at 294 position and the termination cedon occurred in advance. This mutation could interpret the H--deficient phenotype on red cells. At locus FUT2,the synonymous mutation C→T at nt357 and the wild-type at nt385A did not affect the expression of H-substance in body fluid. Conclusion The molecular base of this Para-Bombay phenotype individual is the mutation of double Ts deletion at nt880-882 at locus FUT1.