Am J Hum Genet. 1990 Jul;47(1):101-6.

Partial aldolase B gene deletions in hereditary fructose intolerance.

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Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London.

Abstract

Hereditary fructose intolerance (HFI) is an autosomal recessive condition caused by a deficiency of aldolase B. We have recently shown that three point mutations in this gene account for approximately 85% of HFI alleles in Europe and the United States and are thus of diagnostic importance. In this paper we define three new lesions in the aldolase B gene: two are large deletions, one of 1.65 kb and one of 1.4 kb; the third is a small deletion of 4 bp. We have determined the breakpoints of these deletions and have demonstrated that the presence of such lesions may complicate the genotyping of individuals for diagnosis of HFI.

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PMCID:: PMC1683764

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