A genotyping variant C/T-13910 with LP or LNP was used as a reliable test to detect hypolactasia. Genotyping lactase deficiency was chosen as the most suitable method of selective screening for hypolactasia.
Adult type hypolactasia in an ethnic Uzbek population.
Introducing genetic testing for adult-type hypolactasia. Digestion 2005;71(4):245-250.
Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia. Braz J Med Biol Res 2007 Nov;40(11):1441-1446.
The gold standard for the diagnosis of primary adult-type hypolactasia is the evaluation of lactase activity through intestinal biopsy (5).
Identification of a variant associated with adult type hypolactasia. Nat Genet.
By contrast, in Australia and the United Kingdom, where
hypolactasia affects only about 5 percent of adults, average fertility by 35 to 39 is fully 82 percent below peak rates.
According to the national guidelines approved by the German Medical Association, we routinely used the MutaREAL Lactase test to genotype patients who consulted the internal medicine or outpatient departments with symptoms of adult-type
hypolactasia. In 121 samples, 26 patients (22%) were genotyped to T/T and 52 (43%) to C/T, and 42 (35%) were homozygote carriers of the C-allele associated with the lactose intolerance.
This suggests that the dose of disaccharide administered to humans could be lower in comparison with other noninvasive tests and, therefore, with a possible reduction of abdominal discomfort in
hypolactasia patients.
A single-nucleotide polymorphism (SNP) upstream of the LPH gene at position -13910 (C [right arrow] [T.sub.-13910]) was reported to perfectly match with phenotypic
hypolactasia and lactose malabsorption for the C/C genotype (7).