[Serological Identification and FUT1 Gene Mutation Analysis of 8 Individuals with Para-Bombay Phenotypes in Guangxi].

OBJECTIVE: To study the serological characteristics and molecular biological basis of 8 individuals with Para-Bombay phenotypes in Guangxi area. METHODS: Serological tests were used to identify the blood groups of red cells. Molecular biological methods, including PCR-SSP for ABO genotyping and DNA sequencing for FUT1, were used to detect the genotypes of ABO and FUT1 which determined the expression of H antigen. RESULTS: Eight individuals in the study were all the Para-Bombay phenotypes, including 4 cases of Bmh and 4 cases of Amh. The DNA sequencing for FUT1 showed that 6 cases were h3h3 [c.658C>T (p.Arg220Cys) homozygous mutation], 1 was h832h832 [c.832G>A (p.Asp278Asn) homozygous mutation], and 1 was h328h3 [compound heterozygous mutations of c.328G>A (p.Ala110Thr) and c.658C>T (p.Arg220Cys)]. CONCLUSION: There are varieties of molecular genetic mechanisms for Para-Bombay phenotypes. In this study, the FUT1 mutations that cause Para-Bombay phenotypes in Guangxi area are mainly h3, h328, and h832, among which h3 is the most common mutant.