α1,3半乳糖基转移酶新等位基因278C>T的鉴定  

278C>T variant of the α-1,3-galactosyltransferase allele responsible for Bw subgroup

作　　者：许先国[1] 洪小珍[1] 刘瑛[1] 吴俊杰 马开荣[1] 朱发明[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》2006年第6期631-634,共4页Chinese Journal of Medical Genetics

基　　金：浙江省自然科学基金(M303194);浙江省医药卫生科学研究基金(2003A013)~~

摘　　要：目的研究中国汉族人群ABO血型系统中Bw变异型的分子遗传背景,发现并鉴定一个新的ABO等位基因。方法血型血清学方法鉴定1例ABO血型疑难样本,应用聚合酶链反应、逆转录-聚合酶链反应和DNA序列分析等方法对先证者ABO基因转录调控序列和全编码序列进行突变筛选和检测。结果血清学和家系调查鉴定该样本为Bw表型,对gDNA和cDNA研究发现该样本存在第6外显子278C/T杂合,单倍体分析发现一种新的Bw等位基因,该等位基因与B101相比,差异仅在第6外显子的278C>T错义突变,导致多肽链P93L替换,该突变点位于以前报道的Bw等位基因功能域之外。结论在中国人群中发现一种新的导致Bw变异型的ABO等位基因。Objective To investigate the molecular genetic basis of the Bw variant and identify novel alleles at ABO locus in Chinese Han population. Methods Serological techniques were performed to characterize erythrocyte phenotype of a proband. Mutations of the ABO gene were screened by polymerase chain reaction, reverse transcription-polymerase chain reaction and DNA sequencing. Results The proband was identified as Bw phenotype by serological technology and family study. A novel Bw variant allele was identified in the gDNA and cDNA. The novel allele was observed a missense motation （278 C to T） at the exon 6 which resulted in an amino acid substitution （P93L） compared with B101 allele. The 278 C to T was the first report mutation position in exon 6 among Bw alleles, so the P93L amino acid substitution was different from others Bw variants which had amino acid substitutions in a conserved functional domain reported previously. Conclusion A novel Bw allele （278 C to T） responsible for Bw variant is reported in Chinese population.

关 键 词：ABO变异型/亚型 α1 3半乳糖基转移酶 基因突变 ABO血型系统 

分 类 号：R346[医药卫生—基础医学]