ArticleAmerican journal of human genetics1998
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 82 citations in OpenAlex.
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies.iScience · 2023Review
- GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution.Scientific reports · 2020Article
- Hypercalcemic Disorders in Children.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017Review
- A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.BMC gastroenterology · 2015Article
- Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry.Journal of pediatric gastroenterology and nutrition · 2015Article
- Long term differential consequences of miglustat therapy on intestinal disaccharidases.Journal of inherited metabolic disease · 2014Article
- Differential expression of Homeobox C11 protein in water buffalo Bubalus bubalis and its putative 3D structure.BMC genomics · 2014Article
- Prevalence of adult-type hypolactasia as diagnosed with genetic and lactose hydrogen breath tests in Hungarians.European journal of clinical nutrition · 2009Article
- Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).BMC gastroenterology · 2009Article
- Food intolerances and eosinophilic esophagitis in childhood.Digestive diseases and sciences · 2009Review
- Molecularly defined adult-type hypolactasia in school-aged children with a previous history of cow's milk allergy.World journal of gastroenterology · 2006Article
- Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.American journal of human genetics · 2006Article
- Article
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- Changing genes; losing lactase.Gut · 2003Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital lactase deficiency (CLD) is an autosomal recessive, gastrointestinal disorder characterized by watery diarrhea starting during the first 1-10 d of life, in infants fed lactose-containing milks. Since 1966, 42 patients have been diagnosed in Finland. CLD is the most severe form of lactase deficiency, with an almost total lack of lactase-phlorizin hydrolase (LPH) activity on jejunal biopsy. In adult-type hypolactasia, the most common genetic enzyme deficiency in humans, this enzyme activity is reduced to 5%-10%. Although the activity of intestinal LPH has been found to be greatly reduced in both forms, the molecular pathogenesis of lactase deficiencies is unknown. On the basis of the initial candidate-gene approach, we assigned the CLD locus to an 8-cM interval on chromosome 2q21 in 19 Finnish families. At the closest marker locus, a specific allele 2 was present in 92% of disease alleles. On the basis of a genealogical study, the CLD mutation was found to be enriched in sparsely populated eastern and northern Finland, because of a founder effect. The results of both the genealogical study and the haplotype analysis indicate that one major mutation in a novel gene causes CLD in the Finnish population. Consequently, the critical region could be restricted further, to an approximately 350-kb interval, by ancient-haplotype and linkage-disequilibrium analyses. Surprisingly, the LPH gene was shown to lie outside the critical CLD region, excluding it as a causative gene for CLD. The LPH locus was found to reside >2 Mb from the critical CLD region.
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