BW.03等位基因的鉴定及序列分析——附1例报告  

Identification and sequence analysis of a case of Bw.03 allele

作　　者：陈阳[1] CHEN Yang(Liaoning Blood Center,Shenyang,Liaoning 110044 China)

机构地区：[1]辽宁省血液中心

出　　处：《中国输血杂志》2019年第11期1186-1187,共2页Chinese Journal of Blood Transfusion

摘　　要：目的对1例Bw血型的血清学及分子生物学特性进行分析。方法应用聚合酶链反应-序列特异性引物(polymerase chain reaction-sequence specific primer,PCR-SSP)和ABO等位基因第6、7外显子PCR产物直接测序方法进行ABO亚型基因分型。结果先证者红细胞未检测到B抗原,但血清中含有抗-A。PCR-SSP结果显示标本基因型为B/O2。直接测序分析发现c.297A>G、c.526C>G、c.657C>T、c.703G>A、c.721C>T、c.796C>A、c.803G>C和c.930G>A 8个突变,可推断为BW.03/O.02.01基因型。该序列与B.01基因序列比对仅在721位发生C>T的突变导致多肽链R241S替换。结论B等位基因c.721C>T突变产生BW.03等位基因,导致B抗原表达减弱。Objective To explore the serological and molecular characteristics of a case of Bw phenotype.Methods The Bw phenotype of the proband was confirmed by serological testing.Her genotype was determined using polymerase chain reaction-sequence specific primer(PCR-SSP),direct sequencing for exons 6 and 7 of the ABO locus.Results B antigen wasn’t detected on red blood cells derived from the proband,while anti-A antibody was detected in the serum.The result of PCR-SSP suggested that she had a B/O02 phenotype.DNA sequencing revealed the presence of c.297 A>G,c.526 C>G,c.657 C>T,c.703 G>A,c.721 C>T,c.796 C>A,c.803 G>C and c.930 G>A mutations.The genotype of the proband was deduced as Bw.03/O.02.01.Compared with that of B101 allele,Bw03 allele had a nucleotide change(C>T)at position 721,which resulted in an amino acid substitution(p.Arg241 Trp).Conclusion c.721 C>T of B allele can result in BW.03 allele,which could result in the great reduction of B antigen activity.

关 键 词：ABO基因 Bw亚型 序列分析 

分 类 号：R457.11[医药卫生—治疗学]