一例AB类孟买血型的FUT1基因序列分析

Sequence analysis for a case with Para-Bombay AB blood type

目的鉴定1例罕见的类孟买型ABmh,并探讨其分子机制。方法应用血型血清学方法确定先证者的血型,PCR产物直接测序法分析ABO基因第6、7外显子、FUT1和FUT2基因序列。结果血清学实验结果表明先证者为AB类孟买血型。ABO基因测序结果显示ABO基因型为ABO*A1.02/B.01,FUT1基因直接测序显示先证者的FUT1基因为c.551-552del AG缺失、c.881-882del TT缺失的杂合型,其4个子女中3个为B型、1个为A型,H抗原表达正常。结论FUT1基因编码区双碱基缺失杂合可形成类孟买血型,单链缺失变异携带者的ABO表型正常。

Objective To explore the molecular basis for a rare case with Para-Bombay AB blood type.Methods Serological method was used to determine the blood type of the proband.Exons 6 and 7 of the ABO gene and the coding regions of FUT1 and FUT2 genes were analyzed by direct sequencing.Results Serological results showed that the proband was a Para-Bombay AB subtype.His genotype was determined as ABO*A1.02/B.01.The proband was also found to harbor c.551-552del AG and c.881-882del TT of the FUT1 gene.For his four children,there were three type B and one type A,though the expression of the H type was normal.Conclusion The double deletions in the coding region of the FUT1 gene probably underlay the Para-Bombay blood type in the proband.Carrier of single-strand deletions may have a normal ABO phenotype.