Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22

Genomics. 1991 Dec;11(4):1152-4. doi: 10.1016/0888-7543(91)90044-f.

Abstract

We have mapped the human gene for ferrochelatase (FECH; ferroheme-protolyase, EC 4.99.1.1) to chromosome 18 by hybridization of cDNA to sorted chromosomes. The probe was obtained by PCR-directed amplification of a human marrow cDNA library in lambda gt 10. Subchromosomal localization of ferrochelatase to 18q22 was determined by chromosomal hybridization in situ using a human ferrochelatase genomic clone in lambda EMBL 3 that contained a 20-kb insert. Since ferrochelatase activity is deficient in patients with the inherited disease erythropoietic protoporphyria, a locus for this disease may be assigned to 18q22, one of few monogenic defects that have been mapped to this chromosome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 18*
  • Ferrochelatase / genetics*
  • Humans
  • Microscopy, Fluorescence
  • Nucleic Acid Hybridization
  • Polymerase Chain Reaction
  • Porphyrias / genetics*
  • Porphyrias / metabolism
  • Protoporphyrins / metabolism

Substances

  • Protoporphyrins
  • Ferrochelatase