A functional element necessary for fetal hemoglobin silencing.

ABSTRACT:

Background

An improved understanding of the regulation of the fetal hemoglobin genes holds promise for the development of targeted therapeutic approaches for fetal hemoglobin induction in the β-hemoglobinopathies. Although recent studies have uncovered trans-acting factors necessary for this regulation, limited insight has been gained into the cis-regulatory elements involved.

Methods

We identified three families with unusual patterns of hemoglobin expression, suggestive of deletions in the locus of the β-globin gene (β-globin locus). We performed array comparative genomic hybridization to map these deletions and confirmed breakpoints by means of polymerase-chain-reaction assays and DNA sequencing. We compared these deletions, along with previously mapped deletions, and stud

SUBMITTER: Sankaran VG 

PROVIDER: S-EPMC3174767 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature