FUT1基因两种新的变异检测与一例类孟买型血型的家系分析  

Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype

作　　者：张坤莲 林凤秋 李晓丰 章旭 李剑平 Zhang Kunlian;Lin Fengqiu;Li Xiaofeng;Zhang Xu;Li Jianping(Blood Center of Liaoning Province,Liaoning Provincial Key Laboratory for Blood Safety,Shenyang,Liaoning 110044,China)

机构地区：[1]辽宁省血液中心,辽宁省血液安全研究重点实验室,沈阳110044

出　　处：《中华医学遗传学杂志》2021年第10期1007-1011,共5页Chinese Journal of Medical Genetics

基　　金：沈阳市科技计划(18-014-4-50)。

摘　　要：目的鉴定罕见的类孟买型Bm^(h),并研究其分子遗传背景。方法应用血清学方法鉴定先证者及其家系成员的红细胞ABO及H表型,采用聚合酶链反应-序列特异性引物基因分型方法检测先证者ABO血型基因型。应用扩增产物直接测序法和克隆测序法分析类孟买表型家系的α-1,2-岩藻糖基转移酶基因(FUT1)编码序列。结果先证者为罕见的类孟买Bm^(h)型,ABO基因型为ABO*B.01/ABO*O.01.01型,测序发现FUT1基因存在c.508dupT及c.787A>C两种变异,FUT1基因型为h^(508dupT)/h787C。蛋白活性分析软件预测这两种变异均会造成酶失活,与血清学结果一致。结论鉴定了c.508dupT及c.787A>C两种FUT1新等位基因,尚未见报道,且其为引起先证者类孟买表型的分子机理。Objective To study rare para-Bombay blood type Bm^(h)and to investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family.Methods ABO and H phenotype of the proband and her pedigree were determined with serological methods.The ABO genotype was analyzed by polymerase chain reaction-sequence specific primer(PCR-SSP).The full coding region ofα-l,2-fucosyltransferase(FUT1)gene of the pedigree was analyzed by polymerase chain reaction and direct sequencing of the amplified fragments.The haplotype of the FUT1 gene were analyzed by cloning sequencing.Results The rare para-Bombay blood type Bm^(h)was identified in the proband,with ABO*B.01/ABO*O.01.01 genotype.Two variants of FUT1 gene,c.508dupT and c.787A>C,were found in the proband.The cloning sequencing revealed that the two variants were on different alleles,and the hapotype of FUT1 gene was h508dupT/h787C.Both of the two variants were predicted to cause inactivation of the enzyme,which is consistent with the result of serological techniques.Conclusion Two new alleles of FUT1 gene(h508dupT and h787C),which were associated with para-Bombay phenotype,were identified in the Chinese pedigree.

关 键 词：类孟买型 α-l 2-岩藻糖基转移酶 FUT1基因 H血型系统 

分 类 号：R457.11[医药卫生—治疗学]