Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene

J Med Genet. 2002 Jul;39(7):E40. doi: 10.1136/jmg.39.7.e40.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alkaptonuria / enzymology
  • Alkaptonuria / epidemiology*
  • Alkaptonuria / genetics*
  • Chromosome Mapping
  • DNA / genetics
  • DNA Mutational Analysis
  • Dioxygenases*
  • Dominican Republic / epidemiology
  • Founder Effect
  • Genetic Carrier Screening
  • Homogentisate 1,2-Dioxygenase
  • Humans
  • Male
  • Mouth Mucosa / chemistry
  • Mouth Mucosa / cytology
  • Mutagenesis / genetics
  • Mutation / genetics*
  • Oxygenases / genetics*
  • Polymorphism, Single Nucleotide / genetics

Substances

  • DNA
  • Oxygenases
  • Dioxygenases
  • Homogentisate 1,2-Dioxygenase