Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia

Clinica Chimica Acta

Volumn 384, Issue 1-2, 2007, Pages 93-98

  Weiskirchen, Ralf ^a   Tag, Carmen G ^a   Mengsteab, Senait ^a   Gressner, Axel M ^a   Ingram, Catherine J E ^b   Swallow, Dallas M ^b  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Diagnostic techniques; Digestive system; Genotyping; Lactose intolerance; LightCycler; Single nucleotide polymorphism

Indexed keywords

LACTASE;

ADULT; ADULT DISEASE; ALLELE; ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC KIT; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LACTASE DEFICIENCY; MELTING POINT; POPULATION RESEARCH; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS;

ADULT; GENOTYPE; HUMANS; LACTASE; LACTOSE INTOLERANCE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REAGENT KITS, DIAGNOSTIC; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 34547838260     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2007.06.008     Document Type: Article

References (27)

1. Swallow D.M. Genetics of lactase persistence and lactose intolerance. Annu Rev Genet 37 (2003) 197-219
2. Holden C., and Mace R. Phylogenetic analysis of the evolution of lactose digestion in adults. Hum Biol 69 (1997) 605-628
3. Wooding S.P. Following the herd. Nat Genet 39 (2007) 7-8
4. Swallow D.M., and Hollox E.J. The genetic polymorphism of intestinal lactase activity in adult humans. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular basis of inherited disease. 8th ed. (2001), McGraw-Hill, New York, USA
5. Järvelä I.E. Molecular genetics of adult-type hypolactasia. Ann Med 37 (2005) 179-185
6. Harvey C.B., Fox M.F., Jeggo P.A., Mantei N., Povey S., and Swallow D.M. Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21. Ann Hum Genet 57 (1993) 179-185
7. Kruse T.A., Bolund L., Grzeschik K.H., et al. The human lactase-phlorizin hydrolase gene is located on chromosome 2. FEBS Lett 240 (1988) 123-126
8. Flatz G. Gene-dosage effect on intestinal lactase activity demonstrated in vivo. Am J Hum Genet 36 (1984) 306-310
9. Ho M.W., Povey S., and Swallow D.M. Lactase polymorphism in adult British natives: estimating allele frequencies by enzyme assays in autopsy samples. Am J Hum Genet 34 (1982) 650-657
10. Wang Y., Harvey C.B., Pratt W.S., et al. The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element. Hum Mol Genet 4 (1995) 657-662
11. Enattah N.S., Sahi T., Savilahti E., Terwilliger J.D., Peltonen L., and Jarvela I. Identification of a variant associated with adult-type hypolactasia. Nat Genet 30 (2002) 233-237
12. Poulter M., Hollox E., Harvey C.B., et al. The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans. Ann Hum Genet 67 (2003) 298-311
13. Lewinsky R.H., Jensen T.G., Moller J., Stensballe A., Olsen J., and Troelsen J.T. T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. Hum Mol Genet 14 (2005) 3945-3953
14. Olds L.C., and Sibley E. Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element. Hum Mol Genet 12 (2003) 2333-2340
15. 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
16. Obermayer-Pietsch B.M., Bonelli C.M., Walter D.E., et al. Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures. J Bone Miner Res 19 (2004) 42-47
17. Rasinpera H., Savilahti E., Enattah N.S., et al. A genetic test which can be used to diagnose adult-type hypolactasia in children. Gut 53 (2004) 1571-1576
18. Chao C.K., and Sibley E. PCR-RFLP genotyping assay for a lactase persistence polymorphism upstream of the lactase-phlorizin hydrolase gene. Genet Test 8 (2004) 190-193
19. Mulcare C.A., Weale M.E., Jones A.L., et al. The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9 kbT) does not predict or cause the lactase-persistence phenotype in Africans. Am J Hum Genet 74 (2004) 1102-1110
20. Matthews S.B., Waud J.P., Roberts A.G., and Campbell A.K. Systemic lactose intolerance: a new perspective on an old problem. Postgrad Med J 81 (2005) 167-173
21. Högenauer C., Hammer H.F., Mellitzer K., Renner W., Krjs G.J., and Toplak H. Evaluation of a new DNA test compared with the lactose hydrogen breath test for the diagnosis of lactase non-persistence. Eur J Gastroenterol Hepatol 17 (2005) 371-376
22. Coelho M., Luiselli D., Bertorelle G., et al. Microsatellite variation and evolution of human lactase persistence. Hum Genet 117 (2005) 329-339
23. Bodlaj G., Stocher M., Hufnagl P., et al. Genotyping of the lactase-phlorizin hydrolase -13910 polymorphism by LightCycler PCR and implications for the diagnosis of lactose intolerance. Clin Chem 52 (2006) 148-151
24. Tag C.G., Schifflers M.C., Mohnen M., Gressner A.M., and Weiskirchen R. A novel proximal -13914G>A base replacement in the vicinity of the common -13910T/C lactase gene variation results in an atypical LightCycler melting curve in testing with the MutaREAL Lactase test. Clin Chem 53 (2007) 146-148
25. Ingram C.J., Elamin M.F., Mulcare C.A., et al. A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?. Hum Genet 120 (2007) 779-788
26. Tishkoff S.A., Reed F.A., Ranciaro A., et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet 39 (2007) 31-40
27. MutaREAL Laktase real time PCR kit. Real time PCR-test für die Untersuchung des-13910 T/C-Polymorphismus der regulatorischen Region des Laktase-Gens (LCT) (genetisch bedingte Laktoseintoleranz durch primären Laktasemangel) mittels des LightCycler® (Roche). December 2, 2005 (http://www.immundiagnostik.com/).