类孟买血型FUT1新等位基因及其家系成员的分子遗传学分析——附1例报告

Molecular genetic analysis and predigree of a new FUT1 allele of para-Bombay blood group:a case report

目的研究1例FUT1基因236delG突变致类孟买血型及其家系成员的血清学和分子遗传学特征。方法应用血型血清学方法对先证者及其家系成员进行ABO、H、Lewis血型鉴定,同时应用基因检测方法确认其ABO基因;用PCR方法扩增FUT1基因并对扩增产物进行测序分析;用SwissModel在线服务器对先证者FUT1236delG酶结构进行3D模拟。结果血清学结果显示:先证者为罕见的类孟买型ABhm,Le(a-b-),先证者父亲为A型,先证者母亲为B型;基因检测结果显示:先证者为AB型,先证者父亲为A型,先证者母亲为B型;测序结果显示先证者母亲FUT1基因有236delG杂合突变,先证者父亲FUT1基因有551_552delAG杂合突变,先证者FUT1基因为236delG/551_552delAG杂合突变;先证者FUT1236delG酶结构3D模拟显示翻译产物为无实际功能的1个alpha螺旋结构。结论236delG突变是FUT1基因型中的新发现的突变,它和551_552delAG突变(FUT1;01N.06基因型)的杂合型会导致类孟买血型的产生。

Objective To study the serological and molecular mechanism of a case of para-Bombay blood group caused by 236 delG mutation of FUT1 gene and investigate the pedigree.Methods The ABO,H and Lewis antigens of the proband and her family members were detected serologically,and the ABO blood group was confirmed by gene testing.The FUT1 gene was amplified by PCR and then sequenced.The structure of FUT1236 delG enzyme of the proband was simulated in 3 D by SwissModel online server.Results Serological results showed that the proband was rare para-Bombay ABhm,Le(a-b-).Her father and mother was type A and type B,respectively.The gene results showed that the proband was type AB,while her father and mother was type A and type B,respectively.The sequencing results showed that the proband had 236delG/551_552delAG gene mutation,while her mother had 236delG FUT1 gene mutation,and her father had 551_552delAG FUT1 gene mutation.The 3 D simulation of the enzyme structure of the proband FUT1236 delG showed that the translated product was an alpha helix structure with no actual function.Conclusion The 236 delG mutation is a new discovered mutation in FUT1 genotype,with 551_552delAG mutation(FUT1;01N.06 genotype),which can result in the generation of para-Bombay blood group.