Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

ABSTRACT:

Background

The Ribosomal protein S19 gene locus (RPS19) has been linked to two kinds of red cell aplasia, Diamond-Blackfan Anemia (DBA) and Transient Erythroblastopenia in Childhood (TEC). Mutations in RPS19 coding sequences have been found in 25% of DBA patients, but not in TEC patients. It has been suggested that non-coding RPS19 sequence variants contribute to the considerable clinical variability in red cell aplasia. We therefore aimed at identifying non-coding variations associated with DBA or TEC phenotypes.

Methodology/principal findings

We targeted a region of 19'980 bp encompassing the RPS19 gene in a cohort of 89 DBA and TEC patients for resequencing. We provide here a catalog of the considerable, previously unrecognized degree of variation in this region. We ident

SUBMITTER: Martinez Barrio A 

PROVIDER: S-EPMC2703794 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature