Abstract
The activities of the disaccharidases lactase, maltase, and sucrase were determined in upper jejunal biopsies of 65 healthy adult German males. The study was an attempt to demonstrate the gene-dosage effect on lactase activity expected from the presence of a "hypolactasia" (l) and a "lactase-persistence" (L) allele in the German population. In contrast to lactase/sucrase ratios, lactose/maltose ratios showed a trimodal distribution in proportions of presumed genotypes LL, Ll, and ll compatible with Hardy-Weinberg equilibrium. The frequency of homozygotes ll (13.8%) was similar to the average frequency of lactose malabsorbers in Germany reported in the literature. The importance of considering the lactase gene-dosage effect in population studies of lactase activity is discussed.
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Selected References
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- Asp N. G., Dahlqvist A. Human small intestine -galactosidases: specific assay of three different enzymes. Anal Biochem. 1972 Jun;47(2):527–538. doi: 10.1016/0003-2697(72)90147-9. [DOI] [PubMed] [Google Scholar]
- Dahlqvist A. Assay of intestinal disaccharidases. Anal Biochem. 1968 Jan;22(1):99–107. doi: 10.1016/0003-2697(68)90263-7. [DOI] [PubMed] [Google Scholar]
- Ferguson A., Maxwell J. D. Genetic aetiology of lactose intolerance. Lancet. 1967 Jul 22;2(7508):188–190. doi: 10.1016/s0140-6736(67)90009-8. [DOI] [PubMed] [Google Scholar]
- Flatz G., Howell J. N., Doench J., Flatz S. D. Distribution of physiological adult lactase phenotypes, lactose absorber and malabsorber, in Germany. Hum Genet. 1982;62(2):152–157. doi: 10.1007/BF00282305. [DOI] [PubMed] [Google Scholar]
- Ho M. W., Povey S., Swallow D. Lactase polymorphism in adult British natives: estimating allele frequencies by enzyme assays in autopsy samples. Am J Hum Genet. 1982 Jul;34(4):650–657. [PMC free article] [PubMed] [Google Scholar]
- Howell J. N., Schockenhoff T., Flatz G. Population screening for the human adult lactase phenotypes with a multiple breath version of the breath hydrogen test. Hum Genet. 1981;57(3):276–278. [PubMed] [Google Scholar]
- LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
- Lisker R., Gonzalez B., Daltabuit M. Recessive inheritance of the adult type of intestinal lactase deficiency. Am J Hum Genet. 1975 Sep;27(5):662–664. [PMC free article] [PubMed] [Google Scholar]
- Newcomer A. D., McGill D. B. Disaccharidase activity in the small intestine: prevalence of lactase deficiency in 100 healthy subjects. Gastroenterology. 1967 Dec;53(6):881–889. [PubMed] [Google Scholar]
- Ransome-Kuti O., Kretchmer N., Johnson J. D., Gribble J. T. A genetic study of lactose digestion in Nigerian families. Gastroenterology. 1975 Mar;68(3):431–436. [PubMed] [Google Scholar]
- Sahi T. The inheritance of selective adult-type lactose malabsorption. Scand J Gastroenterol Suppl. 1974;30:1–73. [PubMed] [Google Scholar]
- Schmitz J., Preiser H., Maestracci D., Ghosh B. K., Cerda J. J., Crane R. K. Purification of the human intestinal brush border membrane. Biochim Biophys Acta. 1973 Sep 27;323(1):98–112. doi: 10.1016/0005-2736(73)90434-3. [DOI] [PubMed] [Google Scholar]
- Simoons F. J. The geographic hypothesis and lactose malabsorption. A weighing of the evidence. Am J Dig Dis. 1978 Nov;23(11):963–980. doi: 10.1007/BF01263095. [DOI] [PubMed] [Google Scholar]