中国福建地区类孟买血型个体Fut1基因突变研究

本研究旨在探讨中国福建地区类孟买血型的分子机制。采用血清学方法鉴定研究对象为类孟买血型,采用PCR扩增研究对象的α1,2岩藻糖基转移酶(FUT1)基因编码区序列,并将PCR产物经TA后进行测序,分析fut1基因编码区序列,以证实类孟买血型的发生机制。结果表明,PCR扩增产物电泳分析证实成功扩增fut1基因编码区序列;克隆后测序分析发现本例先证者2条染色体上fut1基因均为第547-552位AG两碱基缺失(CAGAGAG→CAGAG),导致阅读框架发生移码,提前形成终止密码。结论:本例类孟买血型个体fut1基因为h1h1型纯合突变。

Futl Gene Mutation for Para-Bombay Blood Type Individual in Fujian Province of China

This study was aimed to investigate the molecular mechanisms for para-Bombay blood type individual in Fujian Province of China.The para-Bombay blood type of this individual was identified by routine serological techniques.The full coding region of alpha（1,2） fucosyltransferase（FUT1） gene of this individual was amplified by polymerase chain reaction（PCR）,then the PCR product was cloned into T vector.The mutation in coding region of fut1 gene was identified by TA cloning,so as to explore the molecular mechanisms for para-Bombay blood type individual.The results indicated that the full coding region of fut1 gene was successfully amplified by PCR.AG deletion at position 547-552 on 2 homologous chromosomes was detected by TA cloning method,leading to a reading frame shift and a premature stop codon.It is concluded that genetic mutantion of fut1 gene in this para-bombay blood type individual was h1h1 homozygotic type.