Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization |
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Authors: | Frank Martiniuk Amy Ellenbogen Kurt Hirschhorn Rochelle Hirschhorn |
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Institution: | (1) Department of Medicine, NYU School of Medicine, New York, USA;(2) Department of Pediatrics, Mt. Sinai School of Medicine, New York, USA;(3) Department of Medicine, NYU Medical Center, 550 First Avenue, 10016 New York, NY, USA |
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Abstract: | Summary We have further regionally localized the gene for human acid alpha glucosidase (GAA) to 17q21 q23 by examinaiton of hybrid clones derived from a fusion between human fibroblasts carrying a 17/19 balanced translocation (17pter 17q23::19p13.3 19pter; 19qter p13.3::17q23 17qter) and a mouse line deficient in thymidine kinase. These hybrids were constantly maintained in HAT selective media in order to select for the presence of the human thymidine kinase gene on the intact chromosome 17 (17q21-q22) or the 17/19 (17pter 17q23::19p13.3 19pter) translocation chromosome. We detected human GAA by rocket immunoelectrophoresis, using a human specific heterologous antibody raised against human acid alpha glucosidase (GAA) (Honig et al. 1984). Three secondary clones, which contained the 17/19 translocation and no intact chromosome 17 or 19, were still positive for GAA. Two of these secondary clones contained the distal portion of the 17/19 translocation chromosome, with a break in the band 17q21 (probably at 17q21.2), attached to a mouse chromosome. Combined with earlier results (Weil et al. 1979; Nickel et al. 1982; Honig et al. 1984), the gene for GAA can be assigned to 17q21.2 17q23. Additionally, these clones were negative for human peptidase D (PEPD), alpha mannosidase B (MANB), and phosphohexose isomerase (PHI). Combined with previous results (Ingram et al. 1977; Bruns et al. 1979), these results exclude the genes for PEPD and MANB from 19pter 19p13.3 and confirm the exclusion of the gene for PHI from this segment of chromosome 19 (Wilson et al. 1984; Ingram et al. 1977). |
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