A Pedigree Investigation of H-antigen Deletion Caused by Mutation of 658 C to T in the FUT1 Gene

AbstractH-antigen deletion is often caused by FUT1 gene mutation, which is a very rare blood group. In this case, the H-antigen phenotype, FUT1, FUT2 sequences, and family genetic investigation of a 26-year-old patient (proband) and her three family members were studied. The results showed that the proband and little her brother were H-deficient phenotype, their ABO genotype of both was A/O1, her father was A/B, and her mother was O1/O1. The proband and her little brother ’s FUT1 phenotype were both h3|h3, with a homozygous mutation 658C >  T in their FUT1 gene, and the FUT1 phenotype of their parents’ were H|h3, with a heterozygous mutation (658C >  T) in their FUT1 gene. The result of whole gene sequencing showed that the father of the proband had a deletion of CHR19.49,255,178-49,257,177 in the FUT1 gene (hg19 was used as the reference). The results of the family investigation showed that the mutation of site 658 in the FUT1 gene between o ffspring and parents was consistent with Mendelian inheritance law.
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research