Molecular analysis of the cystinuria disease gene: identification of four new mutations,one large deletion,and one polymorphism |
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| Authors: | Luigi Bisceglia Maria Julia Calonge Luca Dello Strologo Gianfranco Rizzoni Luisa de Sanctis Michele Gallucci Ercole Beccia Xavier Testar Antonio Zorzano Xavier Estivill Leopoldo Zelante Manuel Palacin P Gasparini Virginia Nunes |
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| Institution: | (1) Servizio di Genetica Medica, IRCCS-Ospedale “CSS”, I-71013 San Giovanni Rotondo (Fg), Italy Tel.: +39-882-410374; Fax: +39-882-411616, IT;(2) Departament de Genetica Molecular, Institut de Recerca Oncologica, Autovia Castelldefels, Km 2.7, L’Hospitalet de Llobregat, Barcelona, Spain, ES;(3) Departament de Bioquimica i Fisiologia, Facultat de Biologia, Universitat de Barcelona, Avda. Diagonal 645, Barcelona, Spain, ES;(4) Divisione di Nefrologia e Dialisi, Ospedale Pediatrico “Bambino Gesu’”-IRCCS, Rome, Italy, IT;(5) Dip Sc Pediatriche, Università degli Studi di Torino, Piazza Polonia 94, Turin, Italy, IT;(6) Divisione di Urologia, Ospedale “Cristo Re”, Rome, Italy, IT;(7) Divisione di Urologia, IRCCS-Ospedale “CSS” San Giovanni Rotondo (Fg), Italy, IT |
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| Abstract: | A cystinuria disease gene (rBAT) has recently been identified, but evidence strongly suggests that only Type-I cystinuria
is due to mutations in this gene. Sixteen point mutations and a large deletion causing the disease have so far been described
in the rBAT gene sequence. To identify new mutated alleles, genomic DNA was analyzed, after the determination of the entire
genomic structure of the rBAT gene, by RNA-single strand conformation polymorphism analysis, an accurate and sensitive method
able to detect nucleotide changes. Four new point mutations, a large deletion, and a common intragenic polymorphism were detected.
These new mutations increase to 22 the number of mutated alleles so far characterized in rBAT. In addition, the frequency
of 21 mutations was assessed in a sample of accurately defined Type-I cystinuria choromosomes. They account for about 58%
of all Type-I chromosomes, mutation M467T being the most common (0.26).
Received: 15 March 1996 / Revised: 17 May 1996 |
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