Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

ABSTRACT:

Background

Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are available only in specialized laboratories. The recent identification of SEC23B mutations as the cause of CDAII opens new possibilities for the molecular diagnosis of the disease. The aim of this study was to characterize molecular genomic SEC23B defects in 16 unrelated patients affected by CDAII and correlate the identified genetic alterations with SEC23B transcript and protein levels in erythroid precursors.

Methods

SEC23B was sequenced in 16 patients, their relatives and 100 control participants. SEC23B transcript level were studied by quantitative PCR (qPCR) in

SUBMITTER: Punzo F 

PROVIDER: S-EPMC3269369 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature