부산대학교 도서관

Primary lactose intolerance (PLI) is a gradual decrease of lactase activity that usually manifests at the age of 1–5 years. It has been proved that PLI is related to a single-nucleotide polymorphism of the lactase (LCT) gene. An evaluation was performed on the usefulness of genetic tests in detecting LCT13910C>T and 22018G>A polymorphisms in diagnosing lactose intolerance in children. The study group included 99 children aged from 2 months to 16.5 years with different digestive tract symptoms. In all patients a hydrogen breath test (HBT) was conducted and blood samples were collected to determine LCTpolymorphisms. PLI was defined as the presence of the 13910CC and/or 22018GG polymorphism in patients with a positive HBT result. In the group younger than 6 years, no statistically significant correlation was observed between the 13910CC and/or 22018GG LCT polymorphisms and HBT result. In the group of children older than 6, a statistically significant correlation between the 13910CC (p?=?0.0011) and 22018GG (p?=?0.003) LCTpolymorphisms and HBT result was detected. In children older than 6, the result of genetic testing based on LCT13910C>T and 22018G>A polymorphisms may diagnose lactose intolerance.