Abstract
Human porphobilinogen (PBG) deaminase, the heme biosynthetic enzyme deficient in acute intermittent porphyria, and ESA4 have been mapped to the long arm of chromosome 11 by somatic cell hybridization techniques. Man-mouse hybrids derived from the fusion of 2S mouse erythroleukemia (MEL) TK− cells and human HGPRT− fibroblasts have been used for studies on the induction and expression of human PBGD. PBGD was examined by isoelectric focusing, immunoprecipitation and rocket immunoelectrophoresis. Among 120 sub-clones generated from one primary clone (XX-8), a clone was found which contained a single human chromosome consisting of a 4/11 translocation (4q12::11q11). This clone was human PBGD and ESA4 positive and LDHA negative. From examination of other primary and secondary clones, it was possible to rule out assignment of PBGD to chromosome 4. Further regional localization was achieved by characterization of 2S MEL (HGPRT−) x human fibroblast (GM 3552) hybrids containing an X/11 translocation (X;11) (q25-26; q23). One clone (MX/11-2) contained only the intact X/11 translocated chromosome and was LDHA positive. In a second clone (MX/11-3)(LDHA negative), the 11p portion of the translocated chromosome was deleted and the remainder was translocated to a mouse chromosome. Both clones were negative for human PBGD and ESA4. These results demonstrate that human PBGD and ESA4 are encoded on human chromosome 11 in the region 11q23 → 11qter.
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Wang, A., Arredondo-Vega, F., Giampietro, P. et al. 770 REGIONAL ASSIGNMENT OF HUMAN PBG-DEAMINASE (PBGD) AND ESTERASE A4 (ESA4) TO 11q23 11qter. Pediatr Res 15 (Suppl 4), 570 (1981). https://doi.org/10.1203/00006450-198104001-00794
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DOI: https://doi.org/10.1203/00006450-198104001-00794