Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism

Luigi Bisceglia, Maria Julia Calonge, Luca Dello Strologo, Gianfranco Rizzoni, Luisa De Sanctis, Michele Gallucci, Ercole Beccia, Xavier Testar, Antonio Zorzano, Xavier P. Estivill, Leopolde Zelante, Manuel Palacin, Paolo Gasparini, Virginia Nunes

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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).

Original languageEnglish
Pages (from-to)447-451
Number of pages5
JournalHuman Genetics
Volume98
Issue number4
DOIs
Publication statusPublished - 1996
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Bisceglia, L., Calonge, M. J., Dello Strologo, L., Rizzoni, G., De Sanctis, L., Gallucci, M., Beccia, E., Testar, X., Zorzano, A., Estivill, X. P., Zelante, L., Palacin, M., Gasparini, P., & Nunes, V. (1996). Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism. Human Genetics, 98(4), 447-451. https://doi.org/10.1007/s004390050237