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 language | English |
|---|---|
| Pages (from-to) | 479-487 |
| Number of pages | 9 |
| Journal | Journal of Human Genetics |
| Volume | 54 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Aug 2009 |
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Keywords
- Deletion
- MLPA
- Porphyria
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Multiplex ligation-dependent probe amplification : A novel approach for genetic diagnosis of Porphyria. / Di Pierro, Elena; Brancaleoni, Valentina; Besana, Valeria; Cappellini, Maria Domenica.
In: Journal of Human Genetics, Vol. 54, No. 8, 08.2009, p. 479-487.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Multiplex ligation-dependent probe amplification
T2 - A novel approach for genetic diagnosis of Porphyria
AU - Di Pierro, Elena
AU - Brancaleoni, Valentina
AU - Besana, Valeria
AU - Cappellini, Maria Domenica
PY - 2009/8
Y1 - 2009/8
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.
KW - Deletion
KW - MLPA
KW - Porphyria
UR - http://www.scopus.com/inward/record.url?scp=69349092674&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=69349092674&partnerID=8YFLogxK
U2 - 10.1038/jhg.2009.67
DO - 10.1038/jhg.2009.67
M3 - Article
C2 - 19629139
AN - SCOPUS:69349092674
VL - 54
SP - 479
EP - 487
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 8
ER -