In:
Digestion, S. Karger AG, Vol. 71, No. 4 ( 2005), p. 245-250
Abstract:
〈 i 〉 Background and Aims: 〈 /i 〉 To evaluate genotyping for two DNA variants (c.1993+327C 〉 T and c.1438+117G 〉 A), recently found to be associated with adult-type hypolactasia, in the diagnosis of lactose intolerance. 〈 i 〉 Methods: 〈 /i 〉 In total, 166 consecutive patients with gastrointestinal symptoms mimicking hypolactasia admitted to the clinic between March 2002 and December 2002 were included. Genotyping for the two DNA variants (c.1993+327C 〉 T and c.1438+117G 〉 A) and standard H 〈 sub 〉 2 〈 /sub 〉 breath test was performed. 〈 i 〉 Results: 〈 /i 〉 Among 116 patients with positive H 〈 sub 〉 2 〈 /sub 〉 breath test, the c.1993+327C variantwas detectablein 106 (91.4%) patients. Among 50 patients with negative H 〈 sub 〉 2 〈 /sub 〉 breath test, the c.1993+327Cvariantwas seen in 2 patients. Sensitivity, specificity, positive and negative predictive values for the c.1993+327C variant were 91.4, 96.0, 98.1 and 82.8%, respectively. Genotyping for the c.1438+117G variant did not bring any additional information. Among 4 of the 10 patients with positive H 〈 sub 〉 2 〈 /sub 〉 breath test but negative for the c.1993+327C and the c.1438+117G variant,further evaluation revealed other diseases known to cause secondary hypolactasia such as celiac disease and short bowel syndrome. 〈 i 〉 Conclusion: 〈 /i 〉 In symptomatic patients, genotyping for the DNA variant c.1993+327C is a reliable test for adult-type hypolactasia with high sensitivity and specificity and thus provides a new tool in the diagnostic workup of hypolactasia.
Type of Medium:
Online Resource
ISSN:
0012-2823
,
1421-9867
Language:
English
Publisher:
S. Karger AG
Publication Date:
2005
detail.hit.zdb_id:
1482218-0
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