MOLECULAR ANALYSIS OF THE AGXT GENE IN ITALIAN PATIENTS WITH PRIMARY HYPEROXALURIA TYPE-1 (PH1)

Specimens were collected from 22 Italian patients with primary hyperox aluria type 1 (PH1). Ten of them had already been analyzed by molecula r biology. To clarify the molecular characteristics of the AGXT gene d isease responsible for PH1, DNA samples were examined for known mutati ons by hybridisation of PCR products with Sequence Specific Oligonucle otides (PCR-SSO). We planned to identify new mutations of the AGXT gem by heteroduplex analysis followed by direct sequencing. We had alread y standardized a) the conditions for the amplification of the 11 exons of AGXT, b) the PCR-SSO technique and c) the heteroduplex analysis of amplified products. Preliminary results demonstrated that the AGXT mu tations described in previous studies were found only in 40% of the ex amined Italian patients with PH1. The remaining 60% of mutations shoul d be characterised in future studies.