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

doi:10.1016/0888-7543(91)90044-F

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

Oral and Maxillofacial Surgery

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	1152-1154
Number of pages	3
Journal	Genomics
Volume	11
Issue number	4
DOIs	https://doi.org/10.1016/0888-7543(91)90044-F
State	Published - Dec 1991

ASJC Scopus subject areas

Genetics

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@article{8179639dd8ac451887553d04212eb563,

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 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.",

author = "Whitcombe, {David M.} and Carter, {Nigel P.} and Albertson, {Donna G.} and Smith, {Stuart J.} and Rhodes, {David A.} and Cox, {Timothy M.}",

year = "1991",

month = dec,

doi = "10.1016/0888-7543(91)90044-F",

language = "English (US)",

volume = "11",

pages = "1152--1154",

journal = "Genomics",

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T1 - Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22

AU - Whitcombe, David M.

AU - Carter, Nigel P.

AU - Albertson, Donna G.

AU - Smith, Stuart J.

AU - Rhodes, David A.

AU - Cox, Timothy M.

PY - 1991/12

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N2 - 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.

AB - 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.

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