Whitcombe D M, Carter N P, Albertson D G, Smith S J, Rhodes D A, Cox T M
Department of Medicine, University of Cambridge, United Kingdom.
Genomics. 1991 Dec;11(4):1152-4. doi: 10.1016/0888-7543(91)90044-f.
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.
我们通过将互补DNA（cDNA）与分选的染色体进行杂交，将人铁螯合酶基因（FECH；铁血红素-蛋白水解酶，EC 4.99.1.1）定位到了18号染色体上。该探针是通过聚合酶链反应（PCR）定向扩增λ gt 10载体中的人骨髓cDNA文库获得的。使用含有20kb插入片段的λ EMBL 3载体中的人铁螯合酶基因组克隆，通过染色体原位杂交确定了铁螯合酶在亚染色体上的定位为18q22。由于遗传性疾病红细胞生成性原卟啉症患者的铁螯合酶活性缺乏，该疾病的一个基因座可能定位于18q22，这是少数几个已定位到该染色体上的单基因缺陷之一。
