Genomics. 1991 Dec;11(4):1152-4.

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

Whitcombe DM, Carter NP, Albertson DG, Smith SJ, Rhodes DA, Cox TM.

Source

Department of Medicine, University of Cambridge, United Kingdom.

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.

PMID:: 1783383; [PubMed - indexed for MEDLINE]

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Research Support, Non-U.S. Gov't

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Wellcome Trust/United Kingdom

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