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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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1437-4331
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Volume 46, Issue 7 (Jul 2008)

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Genetic testing for adult-type hypolactasia in Italian families

Monica Mottes
  • 1Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy
/ Francesca Belpinati
  • 2Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy
/ Monia Milani
  • 3Department of Clinical and Experimental Medicine, Division of Pediatrics, University of Ferrara, Ferrara, Italy
/ Daniela Saccomandi
  • 4Department of Clinical and Experimental Medicine, Division of Pediatrics, University of Ferrara, Ferrara, Italy
/ Elena Petrelli
  • 5Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy
/ Marisa Calacoci
  • 6Department of Clinical and Experimental Medicine, Division of Pediatrics, University of Ferrara, Ferrara, Italy
/ Roberta Chierici
  • 7Department of Clinical and Experimental Medicine, Division of Pediatrics, University of Ferrara, Ferrara, Italy
/ Pier Franco Pignatti
  • 8Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy
/ Caterina Borgna-Pignatti
  • 9Department of Clinical and Experimental Medicine, Division of Pediatrics, University of Ferrara, Ferrara, Italy
Published Online: 2008-05-28 | DOI: https://doi.org/10.1515/CCLM.2008.189

Abstract

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 sample=112 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 BHT in unrelated family founders was significant (χ2=16.7, p<0.002). The genetic test compared to the BHT had a sensitivity of 95% and 91% and a specificity of 48% and 55% in adults and children, respectively.

Conclusions: Low specificity might be due to intrinsic limitations of the standard BHT or to other possible mutations, although no sequence variation was found upon sequencing a 253 bp fragment of the LCT regulatory region in asymptomatic individuals.

Clin Chem Lab Med 2008;46:980–4.

Keywords: breath test; genetic test; lactose malabsorption; LCT gene polymorphisms

About the article

Corresponding author: Monica Mottes, PhD, Department of Mother and Child, Biology and Genetics, University of Verona, strada le Grazie, 8 37134 Verona, Italy Phone: +39-045-8027184, Fax: +39-045-8027180,


Received: 2007-10-19

Accepted: 2008-03-14

Published Online: 2008-05-28

Published in Print: 2008-07-01


Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2008.189. Export Citation

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