摘要
本研究旨在探讨类孟买血型表型形成的分子机制。采用血清学方法鉴定个体红细胞H抗原;采用高保真PCR扩增检测个体的ɑ1,2岩藻糖基转移酶(FUT1)基因编码区序列,并进行测序、比对分析,以查明个体类孟买血型的发生机制。结果表明:凝胶电泳分析证实成功扩增FUT1基因编码区全长序列;克隆后测序、比对发现:个体1的1条染色体上FUT1基因为h1(547-552delAG),另1条染色体上为h4(35C>T),为h1h4杂合子;个体2,3的2条染色体上FUT1基因均为h1(547-552delAG),为h1h1纯合子。结论:FUT1基因杂合或纯合突变均可致类孟买血型的发生。
This study was aimed to explore the molecular mechanisms for para-Bombay phenotype formation.The H antigen of these individuals were identified by serological tectniques.The full coding region of alpha （1,2） fucosyltransferase （FUT1） gene of these individuals was amplified by high-fidelity polymerase chain reaction （PCR）.PCR product was identified by TOPO cloning sequencing.Analysis and comparison were used to explore the mechanisms of para-bombay phenotype formation in individuals.The results indicated that the full coding region of FUT1 DNA was successfully amplified by PCR and gel electrophoresis.DNA sequencing and analysis found that hl （547-552delAG） existed in one chromosome and h4 （35C ＞ T） existed in the other chromosome of NO.1 individual.Meantime,hl （547-552delAG） was found in two chromosomes of NO.2 and NO.3 individual.It also means that FUT1 gene of NO.1 individual was h1h4 heterozygote,FUT1 gene of NO.2 and NO.3 individuals were h1h1 homozygote.It is concluded that homozygous and heterozygous mutation of FUT1 gene can lead to the formation of para-Bombay phenotype.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2014年第1期195-198,共4页
Journal of Experimental Hematology
基金
福建省自然科学基金资助项目(2012J01427)
