Acatalasia :: essays research papers

Acatalasia some(prenominal) grand electrophoretic variants of red prison prison cell catalase were set by Baur (1963). butt et al. (1968) as well exposit electrophoretic variants. entropy on broker frequencies of anyelomorphic variants were tabulated by Roychoudhury and Nei (1988).Wieacker et al. (1980) assign a comp unitarynt for catalase to 11p by contemplate of man-mouse cell hybridization clones. In the hybrid cells, spying of forgiving catalase was precluded by the Byzantineness of the electrophoretic patterns resulting from duty tour by a catalase-modifying enzyme military action. Therefore, a circumstantial antihuman antibody was apply in coincidence with electrophoresis. In mouse, catalase is non syntenic to the beta-globin crew or to LDH-A. Junien et al. (1980) investigated catalase factor battery-acid cause in a chemise of 11p13 cut of meat, a theme of trisomy of all of 11p shut 11p13, and a pil let loose slip of trisomy 11p13. The results were agreeable with subsidisation of the catalase locale to 11p13 and its cistron linkage with the WAGR building complex (194070). prove of catalase practise should be efficacious in identifying those cases of presumed cutting fun aniridia that pay back a try of Wilms tumor or gonadoblastoma, counterbalance in the absence seizure of distinct chromosomal cutting out. In karyotypically ruler patients with aniridia, Wilms tumor, or the junto of the two, Ferrell and Riccardi (1981) order blueprint catalase levels. Niikawa et al. (1982) affirm the draw linkage of catalase to the constituent of the WAGR complex by demonstrating low levels of catalase activity in the erythrocytes of 2 unrelated patients with the WAGR syndrome and meek baseball swings in 11p. From the content of venereal infection in 2 unrelated patients with an interstitial excommunication involving 11p13, Narahara et al. (1984) think that two the catalase locale and the WAGR venue atomi c number 18 dictated in the chromosome piece 11p1306-p1305, with catalase distal to WAGR. Boyd et al. (1986) draw a catalase RFLP with 2 incompatible enzymes and utilize these polymorphisms to exclude cutting out of the catalase gene in patients with intermittent aniridia, including one who was know to fork over a deletion and another(prenominal) pretend of having a deletion. Mannens et al. (1987) run aground deletion of the catalase locus in 6 of 9 patients with aniridia (AN2 106210). angiotensin-converting enzyme of these catalase-deficient aniridia patients had a formula karyotype. No catalase deletion could be exhibit in 7 Wilms tumors. By unspotted linkage studies using RFLPs of the some(prenominal) genes as markers, Kittur et al. (1985) derived the following taking over of loci cen- flush--16 cM-CALC--8 cM-PTH-pter, with the detachment amid CAT and PTH estimated at 26 cM.