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ASSIGNMENT OF THE HUMAN FERROCHELATASE GENE (FECH) AND A LOCUS FOR PROTOPORPHYRIA TO CHROMOSOME 18Q22

被引：60
作者：
WHITCOMBE, DM
CARTER, NP
ALBERTSON, DG
SMITH, SJ
RHODES, DA
COX, TM
机构：
[1] UNIV CAMBRIDGE,DEPT MED,CAMBRIDGE,ENGLAND
[2] UNIV CAMBRIDGE,MRC MOLEC GENET UNIT,CAMBRIDGE,ENGLAND
[3] UNIV CAMBRIDGE,DEPT PATHOL,CAMBRIDGE,ENGLAND
来源：
GENOMICS | 1991年 / 11卷 / 04期
基金：
英国惠康基金;
关键词：
D O I：
10.1016/0888-7543(91)90044-F
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
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. © 1991.
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页码：1152 / 1154
页数：3
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