The H blood group antigen acts as a precursor sugar chain for the formation of the AB0 blood group and is present on the red blood cell surface of almost all humans, except in rare H-deficient phenotypic individuals, which mainly include Bombay and Bombay-like types. Bombay type is defined as a non-secretory type with complete H deficiency. Its serological characteristics are the lack of ABH antigen on the surface of red blood cells and the lack of H substance in secretion. Its genotypes are H/H, se/se; However, the definition of Bombay-like type is still controversial. Now it is believed that Bombay-like type generally refers to the phenotype with H part deficiency. Its erythrocyte surface ABH antigen is lacking or weakly expressed, while H antigen may or may not exist in secretion fluid. Its genotype is H/H, Se/Se (Se/Se). Bombay-like type is a rare type of red blood cell blood group, belonging to the Hh blood group system. For H-deficient individuals, the serum often contains anti-H unexpected antibodies, which can agglutinate with almost all human red blood cells, thus leading to clinical transfusion difficulties. Studies have shown that the H antigen on the surface of red blood cells is found inFUTThe fucosyl group of the donor substrate is transferred to the sugar chain of the receiving substrate precursor under the catalysis of 1. WhenFUTWhen a variation in the encoding gene of 1 causes a variation in the enzyme characteristics, it leads to a partial deficiency of H antigen and forms a Bombay-like phenotype. At present, reports at home and abroad related to Mumbai typeFUTIThere are many types of gene mutations[1,2,3,4]Through the study of a Bombay-like phenotype family of Zhejiang Han nationality, a new species was foundFUT1 Gene mutation type.
