Use of catalase polymorphisms in the study of sporadic aniridia

Hum Genet. 1986 Jun;73(2):171-4. doi: 10.1007/BF00291609.

Abstract

Catalase is known to map at chromosome 11p13. It is one of the closest known markers to the WAGR locus. Restriction fragment length polymorphisms (RFLP) of the catalase gene may be invaluable for studying rearrangements in somatic tumours, linkage in cases of familial Wilms tumour, and the relationship between sporadic and familial aniridia. We describe a catalase RFLP with two different enzymes and use these polymorphisms to exclude deletion of the catalase gene in patients with sporadic aniridia, including one who is known to have a deletion and another suspected of having a deletion.

MeSH terms

  • Catalase / genetics*
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, 6-12 and X*
  • DNA / genetics
  • DNA Restriction Enzymes
  • Female
  • Genetic Markers
  • Humans
  • Iris / abnormalities*
  • Male
  • Polymorphism, Genetic*

Substances

  • Genetic Markers
  • DNA
  • Catalase
  • DNA Restriction Enzymes