1例类孟买血型的鉴定及分子机制研究

Identification and molecular mechanism of a para-Bombay phenotype

H抗原缺乏表现型是指红细胞上完全或部分缺乏H抗原的稀有表现型。H可以出现或不出现在分泌液中。其中,H缺乏的非分泌型被称为孟买型,其个体红细胞和分泌液中均检测不到ABH抗原,而H缺乏的和H部分缺乏的分泌型被称为类孟买型,红细胞表面缺乏ABH抗原。

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.