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目的鉴定并分析类孟买型的分子机理。方法用血清学方法初步鉴定先证者为B类孟买型,之后利用PCR-SSP技术扩增先证者ABO基因的FUT1和FUT2基因编码区序列,产物经纯化后直接测序进行序列分析。结果先证者FUT1基因第658位的碱基发生替换,(C→T)导致氨基发生突变R→C,此突变遗传自先
Objective To identify and analyze the molecular mechanism of Mumbai type. Methods The serological method was used to identify the probands as B-type. Afterwards, the FUT1 and FUT2 gene coding regions of ABO gene of probands were amplified by PCR-SSP. The products were purified and directly sequenced for sequence analysis. The results of proband FUT1 gene 658 base replacement, (C → T) lead to amino mutation R → C, this mutation is inherited from the first