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 ABO genotyping by polymerase chain reaction-sequence specific primers (PCR-SSP) and fucosyltransferase 1 (FUT1) and fucosyltransferase 2 (FUT2) gene sequencing. The results showed that 3 cases of A_h and 1 case of B_h were detected. FUT1 sequencing showed that there were 2 cases of h3h3, 1 case of h1h1 and 1 case of h³⁰²h1, of which h³⁰² (c.302C>T) was the first discovered mutation. FUT2 sequencing revealed that 4 cases were all Se³⁵⁷Se³⁵⁷. The pedigree study showed that the inheritance of para-Bombay blood group was consistent with autosomal dominant inheritance. In conclusion, the FUT1 gene mutations leading to para-Bombay blood group mainly include h3, h1 and h³⁰², of which h3 mutation is the most common.
Humans ; Retrospective Studies ; Genomics ; Genotype ; Galactoside 2-alpha-L-fucosyltransferase ; Hospitals ; Blood Group Antigens

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 ABO genotyping by polymerase chain reaction-sequence specific primers (PCR-SSP) and fucosyltransferase 1 (FUT1) and fucosyltransferase 2 (FUT2) gene sequencing. The results showed that 3 cases of A_h and 1 case of B_h were detected. FUT1 sequencing showed that there were 2 cases of h3h3, 1 case of h1h1 and 1 case of h³⁰²h1, of which h³⁰² (c.302C>T) was the first discovered mutation. FUT2 sequencing revealed that 4 cases were all Se³⁵⁷Se³⁵⁷. The pedigree study showed that the inheritance of para-Bombay blood group was consistent with autosomal dominant inheritance. In conclusion, the FUT1 gene mutations leading to para-Bombay blood group mainly include h3, h1 and h³⁰², of which h3 mutation is the most common.
Humans ; Retrospective Studies ; Genomics ; Genotype ; Galactoside 2-alpha-L-fucosyltransferase ; Hospitals ; Blood Group Antigens