两例类孟买型血型的FUT1基因突变分析

Mutational analysis for FUT1 gene in two cases with para-Bombay blood type

目的鉴定罕见的类孟买型Bm^h和Am^h，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（polymerasechainreaction—sequencespecificprimer，PCR—SSP）方法进行ABO基因分型的验证，结合测序技术分析a-1，2-岩藻糖基转移酶基因（a-1，2-fucosyltransferasegene，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Bm^h和Am^h型，1例基因定型为BO1型，带有FUT1基因547—548位AG两碱基缺失（hlhl），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（hlh3）。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Bm^h和Am^h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。

Objective To study two cases of rare para-Bombay blood types Bmh and Amh in order to determine clinical strategies of blood transfusion. Methods ABO 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-fucosyltransferase 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 （hlhl）, and another being A205 O2 which contained FUT1 allele a 547-548delAG deletion and a FUT1 allele 658C/T missense mutation （hlh3）. Conclusion FUT1 allele 547-548delAG deletion and 658C 〉 T missense mutation in part form the molecular basis of para-Bombay blood types. As Bm^h and Am^h contain anti-HI in sera, great attention should be paid to avoid adverse reaction of blood transfusion in clinics.