Genetic testing for adult-type hypolactasia in Italian families.

doi:10.1515/CCLM.2008.189

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Genetic testing for adult-type hypolactasia in Italian families.

Clinical chemistry and laboratory medicine - 1 Jan 2008

Mottes Monica, Belpinati Francesca, Milani Monia, Saccomandi Daniela, Petrelli Elena, Calacoci Marisa, Chierici Roberta, Pignatti Pier Franco, Borgna-Pignatti Caterina

Abstract excerpt

BACKGROUND: Adult-type hypolactasia is characterized by the inability to digest lactose during adulthood, due to lactase (LCT) deficiency. It is usually diagnosed by the measurement of breath hydrogen increase after a lactose load (breath hydrogen test, BHT). A substitution of C to T at position -13910 bp upstream the LCT gene (rs4988235), in a regulatory region, was found to be strongly associated with the...

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PMID: 18605960
DOI: 10.1515/CCLM.2008.189

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