A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xg^a.

ABSTRACT:

Background

Although P1 and Xg^a are known to be associated with the A4GALT and XG genes, respectively, the genetic basis of antigen expression has been elusive. Recent reports link both P1 and Xg^a expression with nucleotide changes in the promotor regions and with antigen-negative phenotypes due to disruption of transcription factor binding.

Study design and methods

Whole genome sequencing was performed on 113 individuals as part of the MedSeq Project with serologic RBC antigen typing for P1 (n = 77) and Xg^a (n = 15). Genomic data were analyzed by two approaches, nucleotide frequency correlation and serologic correlation, to find A4GALT and XG changes associated with P1 and Xg^a expression.

Results

For P1, the frequency approa

SUBMITTER: Lane WJ 

PROVIDER: S-EPMC6402986 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature