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 [5]

Clinical Chemistry

Volumn 53, Issue 1, 2007, Pages 146-148

  Tag, Carmen G ^a   Schifflers, Marie Claire ^a   Mohnen, Monika ^a   Gressner, Axel M ^a   Weiskirchen, Ralf ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; DNA FRAGMENT; GENOMIC DNA; GUANINE; LACTASE; THYMINE;

ABDOMINAL PAIN; ADULT; BLOATING; BONE DENSITY; CASE REPORT; DEVICE; DIAGNOSTIC VALUE; DIARRHEA; FLATULENCE; FLUORESCENCE; GENE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYBRIDIZATION; LACTASE DEFICIENCY; LACTOSE INTOLERANCE; LCT GENE; LETTER; MALE; MELTING CURVE; MELTING POINT; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

HUMANS; LACTASE; LACTOSE INTOLERANCE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33845970607     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2006.077529     Document Type: Letter

References (5)

1. Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I. Identification of a variant associated with adult-type hypolactasia. Nat Genet 2002;30:233-7.
2. Obermayer-Pietsch BM, Bonelli CM, Walter DE, Kuhn RJ, Fahrleitner-Pammer A, Berghold A, et al. Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures. J Bone Miner Res 2004;19:42-7.
3. Buning C, Ockenga J, Kruger S, Jurga J, Baier P, Dignass A, et al. The C/C(-13910) and G/G(-22018) genotypes for adult-type hypolactasia are not associated with inflammatory bowel disease. Scand J Gastroenterol 2003;38:538-42.
4. Kuokkanen M, Enattah IMS, Oksanen A, Savilahti E, Orpana A, Jarvela I. Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. Gut 2003;52:647-52.
5. Olds LC, Sibley E. Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element. Hum Mol Genet 2003;12:2331-40.