一例类孟买血型的鉴定及基因分析

目的 鉴定一例类孟买血型并分析其分子生物学背景.方法 应用常规血型血清学方法鉴定其红细胞抗原及血清中的抗体,用吸收放散试验鉴定红细胞上弱表达的ABO抗原,应用凝集抑制试验鉴定唾液中的血型物质.应用分子生物学方法进行分析,对决定H抗原表达的FUT1基因和决定分泌液中H物质表达的FUT2基因进行扩增并测序.结果 该名患者血型为类盂买血型Ah-分泌型,其FUT1等位基因在880～882位缺失2个T,使得阅读框架发生移位;FUT2基因型为Se357 Se357.结论 类孟买血型罕见,本例类盂买型的FUT1基因编码区在880～882位置缺失2个T的移码突变,可以解释其H抗原缺失的原因,其FUT2基因型为正常野生型,与其分泌状态吻合.

Identification and molecular analysis on an individual with para-Bombay Phenotype

Objective To identify a case of Para-Bombay phenotype and analyze it's molecular background.Methods Routine serological methods were used to identify the antigens on red cells and antibodies in serum,the weak antigens on red cells were detected by absorption and elution test.ABO substances were determined by agglutination inhibition test in saliva.FUT1 and FUT2 gene were sequenced with molecular methods.Results The para-Bombay was confirmed as Ah-secretion.Two of the three T repeats located at the nucleotides 880-882 were deleted.This deletion causes the shifting of the open-reading frame.The FUT2 genotype was Se357Se357.Conclusion Para-Bombay phenotype is rare.Homozygous genotype of FUT1 allele,hh(nt880-882de1TT)might be the cause of H-antigens deficiency..The wild type of FUT2 allele was consistent with the secretor status.