CAJ | 학술논문

目的对1个Bw亚型血型家系的分子机制进行研究,并探讨该亚型的临床输血情况.方法对1名ABO血型正反定型不符的无偿献血者及其家人的血型进行血清学鉴定,并应用聚合酶链反应-序列特异性引物法、ABO基因直接测序、TA克隆单倍型分析及相关软件对该突变引起的酶结构及功能变化进行分析等方法,同时对该献血者以往3次所献的血样的临床输血情况进行回顾.结果在该家系中发现了3例较为罕见的Bw亚型.该亚型是由于ABO基因第7外显子存在721C/T杂合,导致R241W氨基酸改变所致.临床回顾提示3次输血均未发现明显异常.结论 ABO基因721C＞T突变是导致Bw亚型的分子遗传基础之一,该亚型在临床输血中的意义尚需进一步探讨.
목적 대1개Bw아형혈형가계적분자궤제진행연구,병탐토해아형적림상수혈정황.방법 대1명ABO혈형정반정형불부적무상헌혈자급기가인적혈형진행혈청학감정,병응용취합매련반응-서렬특이성인물법、ABO기인직접측서、TA극륭단배형분석급상관연건대해돌변인기적매결구급공능변화진행분석등방법,동시대해헌혈자이왕3차소헌적혈양적림상수혈정황진행회고.결과 재해가계중발현료3례교위한견적Bw아형.해아형시유우ABO기인제7외현자존재721C/T잡합,도치R241W안기산개변소치.림상회고제시3차수혈균미발현명현이상.결론 ABO기인721C＞T돌변시도치Bw아형적분자유전기출지일,해아형재림상수혈중적의의상수진일보탐토.
Objective To study a family with Bw subtype of ABO blood group system,and to review safety issues in relation with clinical transfusion.Methods The molecular basis for the blood type was studied with serological assay,polymerase chain reaction-sequence specific primer (PCR-SSP) and DNA sequencing,TA clone and haplotype analysis in one blood donor whose ABO blood group were difficultly typed and her family.The bioinformatics analysis was carried out by biological analysis software to investigate the change of structure and function of enzymes influenced by the change amino acid.A retrospective survey was carried out to investigate what is the actual position that the donor blood was used in the clinical transfusion.Results Three members from the family were found to have a Bw subtype.A substitution of nucleotide C by T at position 721 in exon 7 was discovered,which resulted in replacement of amino acid Arg to Trp.Review of clinical record suggested that there has been no significant abnormality association with past three blood transfusions.Conclusion A 721C＞T mutation of the ABO gene probably underlies the Bw subtype.Further research is needed for understanding the clinical significance of this subtype in the blood transfusion.