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

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

Research output: Contribution to journalArticle

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 - 1991

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Ferrochelatase
Chromosomes
Genes
Erythropoietic Protoporphyria
Chromosomes, Human, Pair 18
Gene Library
In Situ Hybridization
Complementary DNA
Clone Cells
Bone Marrow
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics

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Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. / Whitcombe, David M.; Carter, Nigel P.; Albertson, Donna; Smith, Stuart J.; Rhodes, David A.; Cox, Timothy M.

In: Genomics, Vol. 11, No. 4, 1991, p. 1152-1154.

Research output: Contribution to journalArticle

Whitcombe, David M. ; Carter, Nigel P. ; Albertson, Donna ; Smith, Stuart J. ; Rhodes, David A. ; Cox, Timothy M. / Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. In: Genomics. 1991 ; Vol. 11, No. 4. pp. 1152-1154.
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AU - Cox, Timothy M.

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