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Decline of lactase activity and C/T-13910 variant in Sardinian childhood

Schirru, Enrico and Corona, Valeria and Usai Satta, Paolo and Scarpa, Maria and Cucca, Francesco and De Virgiliis, Stefano and Rossino, Rossano and Frau, Fulvia and Macis, Maria Doloretta and Jores, Rita-Désirée and Congia, Mauro (2007) Decline of lactase activity and C/T-13910 variant in Sardinian childhood. Journal of Pediatric Gastroenterology and Nutrition, Vol. 45 (4), p. 503-506. eISSN 1536-4801. Article.

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DOI: 10.1097/MPG.0b013e31805b5899


OBJECTIVES: Our study aims to determine the age of onset of adult-type hypolactasia in Sardinians, and to establish the age at which genotyping of the C/T-13910 variant can be used reliably in the diagnosis of lactose malabsorption. PATIENTS AND METHODS: A lactose breath hydrogen test was given to 383 randomly selected patients, from 3 to 19 years old. RESULTS: The C/C-13910 genotype was found in 90% of patients; the frequency of the positive lactose breath hydrogen test increased with age and reached a prevalence of 85% at 9 years. CONCLUSIONS: In Sardinians, adult-type hypolactasia becomes phenotypically evident in all individuals older than 9 years, suggesting that this should be considered the minimum age at which the genetic test for lactase nonpersistence should be applied.

Item Type:Article
ID Code:4192
Uncontrolled Keywords:Breath hydrogen test, genetic test, lactose malabsorption, C/T-13910, Sardinia
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
Publisher:Lippincott Williams & Wilkins
Copyright Holders:© 2007 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition
Deposited On:16 Jul 2010 12:10

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