Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.
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.
Whitcombe
D M
DM
Department of Medicine, University of Cambridge, United Kingdom.
Carter
N P
NP
Albertson
D G
DG
Smith
S J
SJ
Rhodes
D A
DA
Cox
T M
TM
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
D011524:Protoporphyrins; D005294:Ferrochelatase