SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.

ABSTRACT:

Background

Vel is a high frequency blood group antigen and its alloantibody is involved in haemolytic transfusion reactions. After elucidation of the molecular basis of the Vel-negative phenotype defined by a 17-base pair deletion in SMIM1, genotyping has been the technique of choice to identify the Vel-negative phenotype, and molecular investigations have contributed to explain Vel expression variability. The present study was aimed at screening for Vel negative blood donors and characterising the genetic changes found in Brazilian donors with altered Vel expression.

Materials and methods

Molecular screening for the SMIM1*64_80del allele was performed in 1,595 blood donor samples using a SNaPshot protocol previously standardised in our laboratory. Four hundred donor samples

SUBMITTER: Arnoni CP 

PROVIDER: S-EPMC6343599 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature