title: Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.
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.
authors.affiliation: Department of Medicine, University of Cambridge, United Kingdom.
authors.forename: D M
authors.initials: DM
authors.lastname: Whitcombe
authors.forename: N P
authors.initials: NP
authors.lastname: Carter
authors.forename: D G
authors.initials: DG
authors.lastname: Albertson
authors.forename: S J
authors.initials: SJ
authors.lastname: Smith
authors.forename: D A
authors.initials: DA
authors.lastname: Rhodes
authors.forename: T M
authors.initials: TM
authors.lastname: Cox
mesh_terms: D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D005294:Ferrochelatase / Q000235:genetics*; D006801:Humans; D008856:Microscopy, Fluorescence; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011164:Porphyrias / Q000235:genetics* / Q000378:metabolism; D011524:Protoporphyrins / Q000378:metabolism
chemical_list: D011524:Protoporphyrins; D005294:Ferrochelatase