Use of catalase polymorphisms in the study of sporadic aniridia.

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.

• Authors: P Boyd, V van Heyningen, A Seawright, G Fekete, N Hastie
• Journal: Human genetics (Hum Genet) Vol. 73 Issue 2 Pg. 171-4 (Jun 1986) ISSN: 0340-6717 [Print] Germany
• PMID: 3013756 (Publication Type: Journal Article)

Chemical References

• Genetic Markers
• DNA
• Catalase
• DNA Restriction Enzymes

Topics

• 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