Genetic variants in promoters and alternative-splicing lesions require to be experimentally tested in order to validate them as causatives of a disease. The digital PCR (dPCR) approach, which is an alternative to the classical qPCR, is an innovative and a more sensitive method for the detection and quantification of nucleic acids. In the present study, we identified four HMBS gene mutations affecting the ubiquitous isoform of porphobilinogen deaminase (PBGD) and established a dPCR protocol which would be able to detect the different transcripts of this gene. With the application of this method, we were able to characterize the functional roles of these four genetic variants, demonstrating that all these mutations were causatives of the non-erythroid variant of the acute intermittent porphyria (AIP) disease.

Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP) / Granata, Francesca; Mendez, Manuel; Brancaleoni, Valentina; Castelbon, Francisco J.; Graziadei, Giovanna; Ventura, Paolo; Di Pierro, Elena. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - 125:3(2018), pp. 295-301. [10.1016/j.ymgme.2018.09.002]

Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP)

Ventura, Paolo
Investigation
;
2018

Abstract

Genetic variants in promoters and alternative-splicing lesions require to be experimentally tested in order to validate them as causatives of a disease. The digital PCR (dPCR) approach, which is an alternative to the classical qPCR, is an innovative and a more sensitive method for the detection and quantification of nucleic acids. In the present study, we identified four HMBS gene mutations affecting the ubiquitous isoform of porphobilinogen deaminase (PBGD) and established a dPCR protocol which would be able to detect the different transcripts of this gene. With the application of this method, we were able to characterize the functional roles of these four genetic variants, demonstrating that all these mutations were causatives of the non-erythroid variant of the acute intermittent porphyria (AIP) disease.
5-set-2018
125
3
295
301
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP) / Granata, Francesca; Mendez, Manuel; Brancaleoni, Valentina; Castelbon, Francisco J.; Graziadei, Giovanna; Ventura, Paolo; Di Pierro, Elena. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - 125:3(2018), pp. 295-301. [10.1016/j.ymgme.2018.09.002]
Granata, Francesca; Mendez, Manuel; Brancaleoni, Valentina; Castelbon, Francisco J.; Graziadei, Giovanna; Ventura, Paolo; Di Pierro, Elena
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/1167757
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