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

David M. Whitcombe, Nigel P. Carter, Donna G. Albertson, Stuart J. Smith, David A. Rhodes, Timothy M. Cox

Research output: Contribution to journalArticlepeer-review

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 λgt 10. Subchromosomal localization of ferrochelatase to 18q22 was determined by chromosomal hybridization in situ using a human ferrochelatase genomic clone in λEMBL 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.

Original languageEnglish (US)
Pages (from-to)1152-1154
Number of pages3
JournalGenomics
Volume11
Issue number4
DOIs
StatePublished - Dec 1991

ASJC Scopus subject areas

  • Genetics

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