Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance

Molecular and Cellular Probes

Volumn 21, Issue 3, 2007, Pages 226-228

  Kriegshäuser, Gernot ^a   Halsall, David ^b   Rauscher, Bettina ^a   Oberkanins, Christian ^a  

^a VIENNALAB DIAGNOSTICS GMBH   (Austria)

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Aldolase B; Hereditary fructose intolerance; Molecular diagnosis; Multiplex PCR; Reverse hybridization

Indexed keywords

ALDOB GENE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DNA HYBRIDIZATION; DNA SEQUENCE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OLIGONUCLEOTIDE PROBE; POINT MUTATION; PRIORITY JOURNAL; REVERSE HYBRIDIZATION;

AUTOMATION; DNA MUTATIONAL ANALYSIS; FRUCTOSE INTOLERANCE; FRUCTOSE-BISPHOSPHATE ALDOLASE; HUMANS; MUTATION; NUCLEIC ACID HYBRIDIZATION; REAGENT STRIPS;

EID: 33947101602     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2007.01.001     Document Type: Article

References (15)

1. Cox T.M. The genetic consequences of our sweet tooth. Nat Rev Genet 3 (2002) 481-487
2. Santer R., Rischewski J., Von Weihe M., Niederhaus M., Schneppenheim S., Baerlocher K., et al. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat 25 (2005) 594-602
3. Ali M., Rellos P., and Cox T.M. Hereditary fructose intolerance. J Med Genet 35 (1998) 353-365
4. Tolan D.R. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. Hum Mutat 6 (1995) 210-218
5. James C.L., Rellos P., Ali M., Heeley A.F., and Cox T.M. Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. J Med Genet 33 (1996) 837-841
6. Costa C., Costa J.M., Deleuze J.F., Legrand A., Hadchouel M., and Baussan C. Simple, rapid nonradioactive method to detect the three most prevalent hereditary fructose intolerance mutations. Clin Chem 44 (1998) 1041-1043
7. Lau J., and Tolan D.R. Screening for hereditary fructose intolerance mutations by reverse dot-blot. Mol Cell Probes 13 (1999) 35-40
8. Kriegshäuser G., Krugluger W., Halsall D., Kury F., and Oberkanins C. Reverse-hybridization assay for mutations associated with hereditary sugar intolerance. Eur J Hum Genet 12 Suppl. 1 (2004) 250
9. Troelsen J.T., Olsen J., Moller J., and Sjostrom H. An upstream polymorphism associated with lactase persistence has increased enhancer activity. Gastroenterology 125 (2003) 1686-1694
10. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
11. Ali M., Tuncman G., Cross N.C., Vidailhet M., Bokesoy I., Gitzelmann R., et al. Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. J Med Genet 31 (1994) 499-503
12. Tolan D.R., and Brooks C.C. Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans. Biochem Med Metab Biol 48 (1992) 19-25
13. Cross N.C.P., De Franchis R., Sebastio G., Dazzo C., Tolan D.R., Gregori C., et al. Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet 335 (1990) 306-309
14. Sebastio G., De Franchis R., Strisciuglio P., Andria G., Dionisi Vici C., Sabetta G., et al. Aldolase B mutations in Italian families affected by hereditary fructose intolerance. J Med Genet 28 (1991) 241-243
15. Santamaria R., Tamasi S., Del Piano G., Sebastio G., Andria G., Borrone C., et al. Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene. J Med Genet 33 (1996) 786-788