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The -13914G>A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence.
In: Scandinavian Journal of Clinical & Laboratory Investigation, Jg. 70 (2010-09-01), Heft 5, S. 354-357
Online
academicJournal
Zugriff:
Background. Adult-type hypolactasia (lactase non-persistence) is a common cause of gastrointestinal symptoms. Several DNA sequence variants have been identified for the lactase-persistence/non-persistence (LP/LNP), the most common being the C to T residing -13910 bp upstream of the lactase gene (LCT). We have analysed sequence variants of LP/LNP in subjects originating from Northern Russia. Methods. A total of 148 subjects with gastrointestinal complaints were genotyped covering about 400 bp around the -13910C/T variant using direct PCR-sequencing. All patients were interviewed about milk-related symptoms using the questionnaire. Disaccharidase activities were measured from intestinal biopsy specimens of the index person. Results. The prevalence of the -13910C/C genotype among 148 patients was 28.4%. A G to A variant residing 13914 bp upstream from the LCT gene (-13914G>A) was identified in one participant carrying the -13910C/C genotype. In two biopsy specimens her lactase activity was above the generally accepted cut off level for adult-type hypolactasia, 10U/g protein. Three other family members also carried the -13914G>A genotype. Among eight family members five had the LNP genotype -13910C/C. Conclusion. A rare variant G to A residing 13914 bp upstream of the LCT gene was identified in a subject carrying the more frequent variant -13910C/C. The -13914G>A variant in heterozygous state was associated with increased lactase activity, suggesting that the increased lactase activity is most likely to be associated with the -13914G>A variant. Further studies need to be done to confirm the functional role of this variant. [ABSTRACT FROM AUTHOR]
Titel: |
The -13914G>A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence.
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Autor/in / Beteiligte Person: | Khabarova, Yulia ; Torniainen, Suvi ; Savilahti, Erkki ; Isokoski, Mauri ; Mattila, Kari ; Järvelä, Irma |
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Zeitschrift: | Scandinavian Journal of Clinical & Laboratory Investigation, Jg. 70 (2010-09-01), Heft 5, S. 354-357 |
Veröffentlichung: | 2010 |
Medientyp: | academicJournal |
ISSN: | 0036-5513 (print) |
DOI: | 10.3109/00365513.2010.491554 |
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