Multiplex ligation-dependent probe amplification: A novel approach for genetic diagnosis of Porphyria

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Abstract

Porphyrias are disorders caused by the genetic defects of enzymes of the heme pathway and are characterized by such a wide genetic heterogeneity that even the molecular analysis is not always decisive for a correct diagnosis. In the past few years, deletion with a size range of few kilobase pairs have been reported. These peculiar mutations, missed by both sequencing and cytogenetic techniques, have been identified by time consuming and technically demanding methods. To provide a rapid and sensitive method for the detection of deletions responsible for porphyria, we successfully designed and tested seven chemically synthesized probe sets specific for each heme gene and their flanking regions, to be used in multiplex ligation-dependent probe amplification technique.

Original languageEnglish
Pages (from-to)479-487
Number of pages9
JournalJournal of Human Genetics
Volume54
Issue number8
DOIs
Publication statusPublished - Aug 2009

Keywords

  • Deletion
  • MLPA
  • Porphyria

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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