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

Hum Genet. 1996 Oct;98(4):447-51. doi: 10.1007/s004390050237.


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 chromosomes. They account for about 58% of all Type-I chromosomes, mutation M467T being the most common (0.26).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Amino Acid Transport Systems, Basic*
  • Amino Acids, Diamino / urine
  • Base Sequence
  • Carrier Proteins / genetics*
  • Cystinuria / diagnosis
  • Cystinuria / genetics*
  • Cystinuria / urine
  • DNA Primers
  • Gene Frequency
  • Genetic Variation
  • Humans
  • Membrane Glycoproteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Sequence Deletion*


  • Amino Acid Transport Systems, Basic
  • Amino Acids, Diamino
  • Carrier Proteins
  • DNA Primers
  • Membrane Glycoproteins
  • SLC7A9 protein, human

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