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Related Experiment Video

Updated: Jun 28, 2026

Measuring Lactase Enzymatic Activity in the Teaching Lab

Measuring Lactase Enzymatic Activity in the Teaching Lab

Published on: August 6, 2018

[Diagnosing lactose intolerance in adults].

Mikala Klok Jørgensen¹, Jørgen Thode, Bogi Davidsen

¹Klinisk Biokemisk Afdeling, Slagelse Sygehus, DK-4200 Slagelse. mijr@regionsjaelland.dk

Ugeskrift for Laeger

|October 23, 2008

Summary

The CC genotype in the lactase gene regulatory sequence (LCT-13910) is nearly twice as common in patients with lactose intolerance compared to blood donors. Genetic testing is a practical method for diagnosing lactose malabsorption.

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Area of Science:

Genetics
Gastroenterology
Molecular Biology

Context:

Primary lactose malabsorption, adult type, is genetically linked to specific genotypes in the lactase gene regulatory sequence (LCT-13910).
The CC genotype at LCT-13910 is associated with lactose malabsorption, while CT and TT genotypes correlate with normal lactose absorption.
Genotyping is increasingly used for routine clinical diagnosis of primary lactose intolerance.

Purpose:

To determine the frequency of LCT-13910 genotypes in a patient cohort with suspected lactose intolerance.
To compare genotype frequencies between patients and a control group of blood donors.
To evaluate the utility of genotyping for routine clinical testing of lactose intolerance.

Summary:

A study genotyped 478 patients and 100 blood donors using real-time PCR and melting curve analysis.
The CC genotype frequency was 14% in patients versus 8% in blood donors, indicating a near doubling.
CT and TT genotype frequencies were similar between patients (37% and 48%) and controls (38% and 54%).

Impact:

The CC genotype frequency is significantly higher in patients with lactose intolerance, supporting its role in the condition.
Genotyping of the LCT-13910 sequence is confirmed as a convenient and effective tool for diagnosing primary lactose intolerance.
These findings aid in understanding the genetic basis of lactose malabsorption and improving diagnostic strategies.