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Genetic testing for adult-type hypolactasia in Italian families by Monica Mottes; Francesca Belpinati; Monia Milani; Daniela Saccomandi; Elena Petrelli; Marisa Calacoci; Roberta Chierici; Pier Franco Pignatti; Caterina Borgna-Pignatti is a Medicine article available to read on EtoBox.

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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 lactase persistence phenotype in North-European populations. Methods: We investigated the -13910 C/T polymorphism to determine LCT genotype distribution and to validate genetic testing for adult-type hypolactasia in a Southern European population. A total of 43 children referred for suspected lactose malabsorption were enrolled in the study, their parents and siblings (whole samples112 individuals) also took the breath test, and all were enrolled for clinical monitoring and genotype determination. In addition, 125 unrelated blood donors from the same geographic area were genotyped for the calculation of allelic frequencies. The frequency of C/C genotypes was 70%. ## Results: The correlation between the C/C genotype (which should correspond to lactose non-digesters) and positive

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Author

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

Publisher

Walter de Gruyter GmbH

Published

2008

Language

EN

Field

Medicine (Health Sciences)