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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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

Fingerprint

Porphyrias
Multiplex Polymerase Chain Reaction
Heme
Inborn Genetic Diseases
Genetic Heterogeneity
Cytogenetic Analysis
Mutation
Enzymes
Genes

Keywords

  • Deletion
  • MLPA
  • Porphyria

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Multiplex ligation-dependent probe amplification: A novel approach for genetic diagnosis of Porphyria",
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.",
keywords = "Deletion, MLPA, Porphyria",
author = "{Di Pierro}, Elena and Valentina Brancaleoni and Valeria Besana and Cappellini, {Maria Domenica}",
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AU - Di Pierro, Elena

AU - Brancaleoni, Valentina

AU - Besana, Valeria

AU - Cappellini, Maria Domenica

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N2 - 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.

AB - 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.

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KW - MLPA

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