Molecular analysis of the agxt gene in italian patients with primary hyperoxaluria type 1 (PH1)

Cristina Ferrettini, Droti Pirulli, Domenico Cosseddu, Martino Marangella, Michele Petrarulo, Gina Mazzola, Serena Vatta, Antonio Amoroso

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Specimens were collected from 22 Italian patients with primary hyperoxaluria type 1 (PH1). Ten of them had already been analyzed by molecular biology. To clarify the molecular characteristics of the AGXT gene disease responsible for PH1, DNA samples were examined for known mutations by hybridisation of PCR products with Sequence Specific Oligonucleotides (PCR- SSO). We planned to identify new mutations of the AGXT gene by heteroduplex analysis followed by direct sequencing. We had already standardized a) the conditions for the amplification of the 11 exons of AGXT, b) the PCR-SSO technique and c) the heteroduplex analysts of amplified products. Preliminary results demonstrated that the AGXT mutations described in previous studies were found only in 40 % of the examined Italian patients with PH1. The remaining 60 % of mutations should be characterised in future studies.

Original languageEnglish
Pages (from-to)18-22
Number of pages5
JournalJournal of Nephrology
Volume11
Issue numberSUPPL. 1
Publication statusPublished - Mar 1998

Fingerprint

Mutation
Genes
Heteroduplex Analysis
Polymerase Chain Reaction
Oligonucleotides
Molecular Biology
Exons
Primary hyperoxaluria type 1
DNA

Keywords

  • AGXT gene
  • Heteroduplex analysis
  • Oxalosis I
  • PCR-SSO
  • PH1

ASJC Scopus subject areas

  • Nephrology

Cite this

Ferrettini, C., Pirulli, D., Cosseddu, D., Marangella, M., Petrarulo, M., Mazzola, G., ... Amoroso, A. (1998). Molecular analysis of the agxt gene in italian patients with primary hyperoxaluria type 1 (PH1). Journal of Nephrology, 11(SUPPL. 1), 18-22.

Molecular analysis of the agxt gene in italian patients with primary hyperoxaluria type 1 (PH1). / Ferrettini, Cristina; Pirulli, Droti; Cosseddu, Domenico; Marangella, Martino; Petrarulo, Michele; Mazzola, Gina; Vatta, Serena; Amoroso, Antonio.

In: Journal of Nephrology, Vol. 11, No. SUPPL. 1, 03.1998, p. 18-22.

Research output: Contribution to journalArticle

Ferrettini, C, Pirulli, D, Cosseddu, D, Marangella, M, Petrarulo, M, Mazzola, G, Vatta, S & Amoroso, A 1998, 'Molecular analysis of the agxt gene in italian patients with primary hyperoxaluria type 1 (PH1)', Journal of Nephrology, vol. 11, no. SUPPL. 1, pp. 18-22.
Ferrettini C, Pirulli D, Cosseddu D, Marangella M, Petrarulo M, Mazzola G et al. Molecular analysis of the agxt gene in italian patients with primary hyperoxaluria type 1 (PH1). Journal of Nephrology. 1998 Mar;11(SUPPL. 1):18-22.
Ferrettini, Cristina ; Pirulli, Droti ; Cosseddu, Domenico ; Marangella, Martino ; Petrarulo, Michele ; Mazzola, Gina ; Vatta, Serena ; Amoroso, Antonio. / Molecular analysis of the agxt gene in italian patients with primary hyperoxaluria type 1 (PH1). In: Journal of Nephrology. 1998 ; Vol. 11, No. SUPPL. 1. pp. 18-22.
@article{0cc1da3761624a28b4a8e3e8e8a107ec,
title = "Molecular analysis of the agxt gene in italian patients with primary hyperoxaluria type 1 (PH1)",
abstract = "Specimens were collected from 22 Italian patients with primary hyperoxaluria type 1 (PH1). Ten of them had already been analyzed by molecular biology. To clarify the molecular characteristics of the AGXT gene disease responsible for PH1, DNA samples were examined for known mutations by hybridisation of PCR products with Sequence Specific Oligonucleotides (PCR- SSO). We planned to identify new mutations of the AGXT gene by heteroduplex analysis followed by direct sequencing. We had already standardized a) the conditions for the amplification of the 11 exons of AGXT, b) the PCR-SSO technique and c) the heteroduplex analysts of amplified products. Preliminary results demonstrated that the AGXT mutations described in previous studies were found only in 40 {\%} of the examined Italian patients with PH1. The remaining 60 {\%} of mutations should be characterised in future studies.",
keywords = "AGXT gene, Heteroduplex analysis, Oxalosis I, PCR-SSO, PH1",
author = "Cristina Ferrettini and Droti Pirulli and Domenico Cosseddu and Martino Marangella and Michele Petrarulo and Gina Mazzola and Serena Vatta and Antonio Amoroso",
year = "1998",
month = "3",
language = "English",
volume = "11",
pages = "18--22",
journal = "Journal of Nephrology",
issn = "1121-8428",
publisher = "Springer International Publishing",
number = "SUPPL. 1",

}

TY - JOUR

T1 - Molecular analysis of the agxt gene in italian patients with primary hyperoxaluria type 1 (PH1)

AU - Ferrettini, Cristina

AU - Pirulli, Droti

AU - Cosseddu, Domenico

AU - Marangella, Martino

AU - Petrarulo, Michele

AU - Mazzola, Gina

AU - Vatta, Serena

AU - Amoroso, Antonio

PY - 1998/3

Y1 - 1998/3

N2 - Specimens were collected from 22 Italian patients with primary hyperoxaluria type 1 (PH1). Ten of them had already been analyzed by molecular biology. To clarify the molecular characteristics of the AGXT gene disease responsible for PH1, DNA samples were examined for known mutations by hybridisation of PCR products with Sequence Specific Oligonucleotides (PCR- SSO). We planned to identify new mutations of the AGXT gene by heteroduplex analysis followed by direct sequencing. We had already standardized a) the conditions for the amplification of the 11 exons of AGXT, b) the PCR-SSO technique and c) the heteroduplex analysts of amplified products. Preliminary results demonstrated that the AGXT mutations described in previous studies were found only in 40 % of the examined Italian patients with PH1. The remaining 60 % of mutations should be characterised in future studies.

AB - Specimens were collected from 22 Italian patients with primary hyperoxaluria type 1 (PH1). Ten of them had already been analyzed by molecular biology. To clarify the molecular characteristics of the AGXT gene disease responsible for PH1, DNA samples were examined for known mutations by hybridisation of PCR products with Sequence Specific Oligonucleotides (PCR- SSO). We planned to identify new mutations of the AGXT gene by heteroduplex analysis followed by direct sequencing. We had already standardized a) the conditions for the amplification of the 11 exons of AGXT, b) the PCR-SSO technique and c) the heteroduplex analysts of amplified products. Preliminary results demonstrated that the AGXT mutations described in previous studies were found only in 40 % of the examined Italian patients with PH1. The remaining 60 % of mutations should be characterised in future studies.

KW - AGXT gene

KW - Heteroduplex analysis

KW - Oxalosis I

KW - PCR-SSO

KW - PH1

UR - http://www.scopus.com/inward/record.url?scp=0031971644&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031971644&partnerID=8YFLogxK

M3 - Article

C2 - 9604804

AN - SCOPUS:0031971644

VL - 11

SP - 18

EP - 22

JO - Journal of Nephrology

JF - Journal of Nephrology

SN - 1121-8428

IS - SUPPL. 1

ER -