CAJ | 학술논문

目的鉴定罕见的类孟买型Bmh和Amh,确定其临床输血对策.方法通过血清学方法检测ABO血型,应用聚合酶链反应-序列特异性引物(polymerase chain reaction-sequence specific primer,PCR-SSP)方法进行ABO基因分型的验证,结合测序技术分析α-1,2-岩藻糖基转移酶基因(α-1,2-fucosyltransferase gene,FUT1)突变的分子遗传机制.结果发现2例血清学分型罕见的类孟买Bmh和Amh型,1例基因定型为BO1型,带有FUT1基因547-548位AG两碱基缺失(h1h1),另1例基因定型为A205O2型,带有FUT1基因547-548位AG两碱基缺失和FUT1基因658C＞T错义突变(h1h3).结论 FUT1基因547-548位AG两碱基缺失和658C＞T错义突变是产生类孟买血型的分子基础之一.由于类孟买型Bmh和Amh血清中含有抗-HI,在临床输血中应引起高度重视,以避免发生不良输血反应.
목적 감정한견적류맹매형Bmh화Amh,학정기림상수혈대책.방법 통과혈청학방법검측ABO혈형,응용취합매련반응-서렬특이성인물(polymerase chain reaction-sequence specific primer,PCR-SSP)방법진행ABO기인분형적험증,결합측서기술분석α-1,2-암조당기전이매기인(α-1,2-fucosyltransferase gene,FUT1)돌변적분자유전궤제.결과 발현2례혈청학분형한견적류맹매Bmh화Amh형,1례기인정형위BO1형,대유FUT1기인547-548위AG량감기결실(h1h1),령1례기인정형위A205O2형,대유FUT1기인547-548위AG량감기결실화FUT1기인658C＞T착의돌변(h1h3).결론 FUT1기인547-548위AG량감기결실화658C＞T착의돌변시산생류맹매혈형적분자기출지일.유우류맹매형Bmh화Amh혈청중함유항-HI,재림상수혈중응인기고도중시,이피면발생불량수혈반응.
Objective To study two cases of rare para-Bombay blood types Bmh and Amh in order to determine clinical strategies of blood transfusion. MethodsABO blood type was determined with serological assays.The samples were also genotyped with polymerase chain reaction-sequence specific primer (PCR-SSP) for potential mutations in a-1,2-fucosyhransferase gene (FUT1).The results were verified with direct sequencing.Results Two rare para-Bombay blood types,namely Bmh and Amh,were identified by serological method,with one being BO1 which contained a FUT1 allele 547-548delAG deletion (h1h1),and another being A205 O2 which contained FUT1 allele a 547-548delAG deletion and a FUT1 allele 658C/T missense mutation (h1h3). ConclusionFUT1 allele 547-548delAG deletion and 658C ＞ T missense mutation in part form the molecular basis of para-Bombay blood types.As Bmh and Amh contain anti-HI in sera,great attention should be paid to avoid adverse reaction of blood transfusion in clinics.