DNA analysis in patients with hereditary fructose intolerance.
Restriction fragments of the aldolase B gene were studied in 11 patients with hereditary fructose intolerance and compared with the normal pattern. No major deletion of the gene was observed. One patient was found to be a compound heterozygote since one allele with normal restriction sites was inherited from the mother and the other with an abnormal Bam HI site was inherited from the father. The anomaly of the Bam HI fragment observed in this family was not found in 62 normal controls from the same origin as the patient.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics*; D004247:DNA / Q000032:analysis*; D004262:DNA Restriction Enzymes; D005260:Female; D005633:Fructose Intolerance / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization
D004247:DNA; D004262:DNA Restriction Enzymes; D005634:Fructose-Bisphosphate Aldolase