FUT1基因h235位和h649位罕见突变组合致类孟买血型分子机制研究及家系调查

Study on molecular mechanism and pedigree investigationof para-bombay blood group caused by rare mutations at position hand position h of FUT1 gene

目的对由两个罕见位点突变组合致类孟买血型进行分子机制研究及家系调查。方法使用血清学试验进行ABO、H抗原检测,并用基因检测方法确认其ABO血型;应用PCR技术扩增FUT1基因,并进行测序分析。结果血清学结果显示:先证者为罕见的类孟买型Bhm,Le(a-b+),先证者父母均为B型Le(a-b+);测序结果显示先证者与其母FUT1基因h235位均为G→C杂合突变。先证者与其父FUT1基因h649位均为G→T杂合突变。结论两个罕见位点突变组合导致类孟买型表型的形成,本研究有利于阐明中国人群类孟买型基因多态性和遗传异质性,为类孟买型的血型鉴定和安全合理的用血提供了数据支持和理论依据。

Objective To study the molecular mechanism of para-bombay blood group caused by two rare mutation combinations and investigate the pedigree. Methods ABO and H antigens were detected by serological test, and the ABO blood group was confirmed by gene detection;the FUT1 gene was amplified by PCR and sequenced. Results Serological results showed that the proband was a rare para-bombay blood Bhm,Le(a-b+),and the proband′s parents were both B Le(a-b +). The sequencing results showed that the proband and his mother had mutation at h235 G→C of FUT1 gene. Proband and his father had mutation at h649 G→T of FUT1 gene. Conclusion The combination of two rare mutations resulted in the formation of a para-bombay phenotype, which is helpful to clarify the gene polymorphism and genetic heterogeneity of para-bombay phenotype, providing data support and theoretical basis for its blood group identification and safe and reasonable blood use of para-bombay phenotype.