一个类孟买血型家系的α1,2岩藻糖基转移酶基因突变分析  

Analysis of α-1,2-fucosyltransferase gene mutations in a Chinese family with para-Bombay phenotype

作　　者：许先国[1] 洪小珍[1] 刘瑛[1] 应燕玲[1] 陶苏丹[1] 和艳敏[1] 朱发明[1] 吕杭军[1] 严力行[1] 

机构地区：[1]浙江省血液中心输血研究所 卫生部血液安全研究重点实验室,杭州310006

出　　处：《中华医学遗传学杂志》2010年第3期250-254,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30772065,30871112）

摘　　要：目的 研究1个中国人类孟买型血型家系的分子遗传背景.方法 以血型血清学方法鉴定先证者及其家系的红细胞ABO和H表型,应用聚合酶链反应扩增类孟买表型家系的ABO基因第6、7外显子和α1,2岩藻糖基转移酶基因（α-1,2-fucosyltransferase,FUT1）编码区,PCR产物直接测序分析,并通过克隆测序法对存在FUT1基因复合杂合的样本进行单倍体序列分析.结果 通过血清学技术在9个家系成员中鉴定了3个类孟买型,直接测序发现先证者FUT1基因存在35C/T、235G/C和682A/G复合杂合.单倍体序列分析表明先证者的FUT1基因型为h235c/h35T＋628G.其中h235C等位基因引起α1,2岩藻糖基转移酶G79R替换,h35＋628G等位基因引起α1,2岩藻糖基转移酶A12V和M228V替换.结论 在中国人群中发现一种新的类孟买表型相关的FUT1基因突变235G〉C.Objective To investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family. Methods ABO and H phenotypes of the proband and his pedigree were characterized by serological techniques. The exons 6 and 7 of the ABO gene and full coding region of α-1 ,2-fucosyltransferase （FUT1 ） gene of the pedigree were analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotypes of compound heterozygote of the FUT1 gene were also analyzed by cloning sequencing. Results Three para-Bombay phenotypes were identified in nine family members by serological technology. Three heterozygous variants （35C/T, 235G/C and 682A/G） were found in FUT1 gene of the proband, and the hapotype of FUT1 gene was h235C/h35T＋628G according to the cloning sequencing. The alleles h235C and h35T＋628G caused G79R, A12V and M228V amino acid substitutions in α-1, 2-fucosyltransferase, respectively. Conclusion A novel 235G〉C mutation of FUT1 gene which was associated with para-Bombay phenotype was found in the Chinese pedigree.

关 键 词：类孟买型 α1 2岩藻糖基转移酶 FUT1基因 H血型系统 

分 类 号：R440[医药卫生—诊断学]