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Identification and molecular mechanism of a para-Bombay phenotype

ZHAO Qian;WANG Zhenlei;SU Man;  
To investigate the serological characteristics and molecular mechanism of a para-Bombay phenotype.ABO forward and reverse typing was performed by serological method.ABO genotyping was performed by PCR-SSP method,and the fourth exon of FUT1 gene was amplified.The fourth exon sequence of FUT1 gene was analyzed by PCR-SBT method to determine the mutation position,points and types.The serological method was identified as Bh para-Bombay phenotype,and the ABO genotyping result was BO2.The FUT1 gene sequencing showed that its genotype was h1/h9(h1:nt547-552 deletion AG,h9:nt424 C→T).The FUT1 gene mutation type of this class of Bh para-Bombay phenotype was h1/h9 heterozygous mutation.
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