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Assignment1 of glucose 6-phosphate translocase
(G6PT1 ) to human chromosome band 1 q23.3 by in situ hybridization
Rationale and significance
Glycogen storage disease (GSD) type 1 results from defects in the glucose 6-phosphate enzyme system. GSD type lb (GSD lb) is a subtype of GSD and is due to a defect of the glucose 6-phosphate transporter, glucose-6-phosphate translocase (G6PT) (Narisawa et al., 1978; Lange et al., 1980). Annabi, et al. (1998) reported the linkage of the GSD lb locus to genetic markers spanning a 3-cM region on chromosome 1 lq23. Recently, the cDNA sequence encoding a human G6PT has been identified and point mutations were reported in the gene of two GSD lb patients (Gerin et al., 1997). We have recently cloned the human genomic DNA encoding G6PT (G6PT1) (Ihara et al., 1998). Here we confirmed the chromosome assignment of G6PT1 and localized it more precisely to chromosome 1 q23.3 by fluorescence in situ hybridization.
Materials and methods
PCR amplification for a probe
Based on...