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Improving diagnosis of adult-type hypolactasia in patients with abdominal complaints

Abstract Background: Adult-type hypolactasia is caused by genetic lactase non-persistence. It is the most common cause of lactose intolerance, which results in gastrointestinal symptoms after ingestion of dairy products. Currently, lactose intolerance is investigated by the hydrogen breath test (HBT), which is considered the preferred diagnostic test. Adult-type hypolactasia may also be diagnosed by genotyping. The single nucleotide polymorphism –13910C>T, which is located upstream of the lactase gene (LCT), is tightly associated with lactase persistence. Several other variants, mostly in non-European populations, can also lead to lactase persistence. This study investigated the accuracy of a modified, recently proposed algorithm which includes genotyping for the diagnosis of adult-type hypolactasia in a patient population with unexplained abdominal complaints. Methods: In 126 patients with unexplained abdominal symptoms or who were suspected to have adult-type hypolactasia, LCT genotyping by melting curv...

Authors:   Brigitte C.M. Haberkorn; Anton A.M. Ermens; Ankie Koeken; Christa M. Cobbaert; Coen van Guldener
Journal:   Clinical Chemistry
Year:   2011
DOI:   10.1515/CCLM.2011.716
Publication date:   21-Sep-2011
Facts, background information, dossiers
  • genotyping
  • single nucleotide p…
  • lead
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