Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.

ABSTRACT:

Background

Menkes disease (MD) is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene. Thirty-three Menkes patients in whom no mutation had been detected with standard diagnostic tools were screened for exon duplications in the ATP7A gene.

Methods

The ATP7A gene was screened for exon duplications using multiplex ligation-dependent probe amplification (MLPA). The expression level of ATP7A was investigated by real-time PCR and detailed analysis of the ATP7A mRNA was performed by RT-PCR followed by sequencing. In order to investigate whether the identified duplicated fragments originated from a single or from two different X-chromosomes, polymorphic markers located in the duplicated fragments were analyzed.

Results

Pa

SUBMITTER: Mogensen M 

PROVIDER: S-EPMC3240829 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature