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Abstract
The genetic defect in muscle phosphofructokinase deficiency (type VII glycogenosis, Tarui disease) was investigated. Six cDNAs for muscle phosphofructokinase, including a full-length clone, were isolated from a non-amplified library of muscle from a patient. By sequence analysis of these clones, a 75-base in-frame deletion was identified. The rest of the sequence was identical to that of the normal cDNA, except for a silent base transition at position 516 (ACT (Thr) to ACC (Thr]. The deletion was located in the 3'-terminal region of exon 13 (numbered with reference to the rabbit muscle phosphofructokinase gene (Lee, C.-P., Kao, M.-C., French, B.A., Putney, S.D., and Chang, S.H. (1987) J. Biol. Chem. 262, 4195-4199]. Genomic DNA of the patient was amplified by polymerase chain reaction. Sequence analysis of the amplified DNA revealed a point mutation from G to T at the 5'-end of intron 13. This mutation changed the normal 5'-splice site of CAG:GTATGG to CAG:TTATGG. A cryptic splice site of ACT:GTGAGG located 75 bases upstream from the normal splice site was recognized and spliced in the patient.
Highlights
We describe the identification of the genetic defect in a patient with Tarui disease by cDNA cloning and gene amplification
Taking the first adenine of the ATG initiation codon as position 1, we identified a silent base transition at position 516 (from ACT (Thr) to ACC (Thr)) and a 75base in-frame deletion from positions 1267 to 1341 (Fig. 1)
Since the deletion was located in mRNA corresponding to the 3’-terminal region of exon 13 of the rabbit muscle phosphofructokinase gene [22], the genomic sequence was determined by amplifying the relevant region by PCR
Summary
From the Second Department of Internal Medicine, Osaka University 553 and the SDepartment of Nutrition and Physiological Chemistry, Kita-ku, Osaka 530, Japan. Osaka University Medical School, 4-3-57 Nakanoshima, The genetic defect in muscle phosphofructokinase deficiency (type VII glycogenosis, Tarui disease) was investigated. Six cDNAs for muscle phosphofructokinase, including a full-length clone, were isolated from a non-amplified library of muscle from a patient. By sequence analysis of these clones, a 75-base in-frame deletion was identified. The rest of the sequence was identical to that of the normal cDNA, except for a silent base transition at position 516 (ACT (Thr) to ACC (Thr)). The deletion was located in the 3’-terminal region of exon 13 Genomic DNA of the patient was amplified by polymerase chain reaction.
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