[Serology and genomic analysis of para-Bombay individuals in a hospital in Hunan Province].

To investigate the serological and genetic characteristics of para-Bombay patients in a hospital in Hunan Province. A retrospective analysis was conducted on the blood type results of 175 439 hospitalized patients born in Hunan Province from the Third Xiangya Hospital, Central South University from 2016 to 2021. Phenotypes of ABO blood group was analyzed by blood group serology, and molecular biological methods were used to analyze the genotype, including genotyping by polymerase chain reaction-sequence specific primers (PCR-SSP) and fucosyltransferase 1 ( and fucosyltransferase 2 ( gene sequencing. The results showed that 3 cases of A and 1 case of B were detected. sequencing showed that there were 2 cases of , 1 case of and 1 case of , of which (c.302C>T) was the first discovered mutation. sequencing revealed that 4 cases were all . The pedigree study showed that the inheritance of para-Bombay blood group was consistent with autosomal dominant inheritance. In conclusion, the ene mutations leading to para-Bombay blood group mainly include , and , of which mutation is the most common.