A Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A.

ABSTRACT:

Background

Here we report a case of para-Bombay phenotype due to a novel mutation FUT1 c.361G>A p.(Ala121Thr) and a nonfunctional allele FUT1*01N.13(c.881_882delTT) which showed a discrepancy in the routine ABO blood group typing.

Materials and methods

The ABO phenotype and the Lewis blood group were typed with serological methods. The ABH antigens in saliva were determined by a hemagglutination inhibition test. The CDS region of ABO, FUT1and FUT2 were amplified with polymerase chain reaction and then directly sequenced. The novel mutation was confirmed by cloning and sequencing. Three-dimensional (3-D) structural analysis of the mutant and wild-type Fut1 were performed by the Chimera software.

Results

A, B and H antigens were not de

SUBMITTER: Lei H 

PROVIDER: S-EPMC8406362 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature