Molecular Genetics

Mutation detection strategies were initially complicated by the presence of two partial pseudogenes, ABCC6-C1 and ABCC6-C2, in the human genome. They are both products of large genomic duplications containing 5' portions of ABCC6 as well as part of the neighboring pM5 gene, located upstream of ABCC6. ABCC6-C1 contains the promoter region as well as the first nine exons of ABCC6, whereas ABCC6-C2 is nearly identical to the 5' untranslated region and exons 1-4. They are located in close proximity to ABCC6 on the short arm of chromosome 16. Both are highly homologous to their origin and differ only in a few nucleotide positions.[19] Current mutation detection methods employ gene-specific primers (Table 1) which allow detection of over 70% of mutations using denaturing high-performance liquid chromatography (dHPLC) through WAVE technology (TransgenomicTM) as a screening technique[20] and over 80% with direct sequencing of the entire ABCC6 coding region. Mutation detection has not only solved a historical debate about the mode of inheritance in PXE but allows timely and presymptomatic detection of affected individuals who may be counseled to avoid risk factors that would exacerbate their eye or cardiovascular disease. In addition, mutation detection has significantly improved genetic counseling and offers the possibility for prenatal diagnosis.

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