Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1990 Jul;47(1):101–106.

Partial aldolase B gene deletions in hereditary fructose intolerance.

N C Cross 1, T M Cox 1
PMCID: PMC1683764  PMID: 2349937

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.

Full text

PDF
101

Images in this article

102Figure 1
on p.102
104Figure 3
on p.104
104Figure 4
on p.104

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. CHAMBERS R. A., PRATT R. T. Idiosyncrasy to fructose. Lancet. 1956 Aug 18;271(6938):340–340. doi: 10.1016/s0140-6736(56)92196-1. [DOI] [PubMed] [Google Scholar]
  2. Canning S., Dryja T. P. Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci U S A. 1989 Jul;86(13):5044–5048. doi: 10.1073/pnas.86.13.5044. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cross N. C., Cox T. M. Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. Q J Med. 1989 Nov;73(271):1015–1020. [PubMed] [Google Scholar]
  4. Cross N. C., Tolan D. R., Cox T. M. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell. 1988 Jun 17;53(6):881–885. doi: 10.1016/s0092-8674(88)90349-2. [DOI] [PubMed] [Google Scholar]
  5. Cross N. C., de Franchis R., Sebastio G., Dazzo C., Tolan D. R., Gregori C., Odievre M., Vidailhet M., Romano V., Mascali G. Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet. 1990 Feb 10;335(8685):306–309. doi: 10.1016/0140-6736(90)90603-3. [DOI] [PubMed] [Google Scholar]
  6. FROESCH E. R., WOLF H. P., BAITSCH H., PRADER A., LABHART A. Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase. Am J Med. 1963 Feb;34:151–167. doi: 10.1016/0002-9343(63)90050-0. [DOI] [PubMed] [Google Scholar]
  7. Green M. R. Pre-mRNA splicing. Annu Rev Genet. 1986;20:671–708. doi: 10.1146/annurev.ge.20.120186.003323. [DOI] [PubMed] [Google Scholar]
  8. Grégori C., Besmond C., Odievre M., Kahn A., Dreyfus J. C. DNA analysis in patients with hereditary fructose intolerance. Ann Hum Genet. 1984 Oct;48(Pt 4):291–296. doi: 10.1111/j.1469-1809.1984.tb00842.x. [DOI] [PubMed] [Google Scholar]
  9. Lai C. Y., Nakai N., Chang D. Amino acid sequence of rabbit muscle aldolase and the structure of the active center. Science. 1974 Mar;183(130):1204–1206. doi: 10.1126/science.183.4130.1204. [DOI] [PubMed] [Google Scholar]
  10. Langlois S., Kastelein J. J., Hayden M. R. Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH). Am J Hum Genet. 1988 Jul;43(1):60–68. [PMC free article] [PubMed] [Google Scholar]
  11. Patthy L., Váradi A., Thész J., Kovács K. Identification of the C-1-phosphate-binding arginine residue of rabbit-muscle aldolase. Isolation of 1,2-cyclohexanedione-labeled peptide by chemisorption chromatography. Eur J Biochem. 1979 Sep;99(2):309–313. doi: 10.1111/j.1432-1033.1979.tb13258.x. [DOI] [PubMed] [Google Scholar]
  12. Roth D. B., Porter T. N., Wilson J. H. Mechanisms of nonhomologous recombination in mammalian cells. Mol Cell Biol. 1985 Oct;5(10):2599–2607. doi: 10.1128/mcb.5.10.2599. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Rottmann W. H., Tolan D. R., Penhoet E. E. Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones. Proc Natl Acad Sci U S A. 1984 May;81(9):2738–2742. doi: 10.1073/pnas.81.9.2738. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Steinmann B., Gitzelmann R. The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. 1981 Sep;36(4):297–316. [PubMed] [Google Scholar]
  15. Sykes B. C. DNA in heritable disease. Lancet. 1983 Oct 1;2(8353):787–788. doi: 10.1016/s0140-6736(83)92314-0. [DOI] [PubMed] [Google Scholar]
  16. Tolan D. R., Penhoet E. E. Characterization of the human aldolase B gene. Mol Biol Med. 1986 Jun;3(3):245–264. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES