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 mutation of fut1 gene in this para-bombay blood type individual was h1h1 homozygotic type.
ABO Blood-Group System ; genetics ; Aged ; Asian Continental Ancestry Group ; genetics ; China ; Fucosyltransferases ; genetics ; Genotype ; Humans ; Male ; Mutation ; Sequence Analysis, DNA