Abstract：
BACKGROUND & AIMS:Intestinal lactase activity is high in all healthy human babies, but in adults a genetic polymorphism, which acts in cis to the lactase gene, determines high or low messenger RNA (mRNA) expression and activity (lactase persistence and nonpersistence, respectively). Our aim was to investigate the onset of expression of this polymorphism in children. METHODS:Activities were analyzed in relation to age in normal biopsy specimens from a 20-year collection of diagnostic specimens. In a smaller set of 32 samples, aged 2-132 months, RNA was extracted for semiquantitative reverse-transcription polymerase chain reaction. Marker polymorphisms were used to determine the allelic origin of lactase mRNA transcripts. RESULTS:Analysis of 866 children showed evidence that the lactase persistence/nonpersistence polymorphism began before 5 years of age. The 32 children tested had high lactase mRNA and activity. Six children aged 2-16 months showed equal expression of two alleles, 2 children aged 7 and 14 months showed slightly asymmetric expression, and 7 children aged 22-132 months showed very asymmetric expression, the second allele being undetectable in the 11-year-old, as previously seen in lactase-persistent heterozygote adults. CONCLUSIONS:Genetically programmed down-regulation of the lactase gene is detectable in children from the second year of life, although the onset and extent are somewhat variable.
journal_name
Gastroenterologyjournal_title
Gastroenterologyauthors
Wang Y,Harvey CB,Hollox EJ,Phillips AD,Poulter M,Clay P,Walker-Smith JA,Swallow DMdoi
10.1016/s0016-5085(98)70429-9subject
Has Abstractpub_date
1998-06-01 00:00:00pages
1230-6issue
6eissn
0016-5085issn
1528-0012pii
S0016508598005472journal_volume
114pub_type
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