Jk_null alleles in two patients with anti-Jk3.

ABSTRACT:

Background

As of publication, a total of 41 null alleles have been acknowledged by the International Society of Blood Transfusion (ISBT) to cause the rare Jk_null phenotype, but none have been discovered in Austria thus far.

Materials and methods

Two patients with anti-Jk3 were serologically identified by a positive antibody screening and typed as Jk(a-b-). The initial genotyping using an SSP-PCR method for the common 838A/G polymorphism indicated a JK*02/02, or JK*01/02 genotype, respectively. To find the disruptive mutations, Sanger sequencing was performed and results were compared to the reference sequence. The patient's antibodies were characterized with a monocyte monolayer assay (MMA) for their potential clinical significance.

Results

Three novel null

SUBMITTER: Allhoff W 

PROVIDER: S-EPMC8092040 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature