Summary
Lactose absorption capacity was determined by lactose tolerance tests with breath hydrogen determination in 102 healthy, adult, Hungarian pairs of twins in order to test monogenic Mendelian inheritance of the absorptive lactase phenotypes, lactose absorber and lactose malabsorber. Of the total, 52 pairs were monozygous (MZ) and 50 dizygous (DZ) twins of indentical sex. All MZ twins were concordant with respect to lactase phenotype. Among DZ twins, the distribution of lactase phenotypes was in agreement with Hardy-Weinberg expectations derived from the frequencies of the hypolactasia gene in DZ and MZ twins, and in the general Budapest population.
In the second part of the study, three commonly used methods of lactose tolerance testing, the blood glucose, the blood galactose, and the breath hydrogen tests, were compared in 49 pairs of twins concordant for lactase phenotype. Blood galactose concentration showed the greatest and only significant difference between the intrapair correlation coefficients of MZ and DZ, and no overlap between lactose absorbers and lactose malabsorbers. The intrapair correlation coefficients of peak breath hydrogen concentration in MZ and DZ twins did not significantly differ from zero, but the resolution of lactase phenotypes was satisfactory. Differences in glucose absorption and concentration in lactose absorbers and malobsorbers overlapped considerably, and among lactose absorbers correlation coefficients in DZ were higher than in MZ twins. In MZ and DZ twins, the difference in concordance and constancy of lactose intolerance symptoms was not significant.
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References
Bjørneklett A, Jensen E (1982) Relationship between hydrogen (H2) and methane (CH4) production in man. Scand J Gastroenterol 17:85–992
Czeizel A, Flatz G, Flatz SD (1983) Prevalence of primary adult lactose malabsorption in Hungary. Hum Genet 64:398–401
Dahlqvist A (1974) Enzyme deficiency and malabsorption of carbohydrates. In: Sipple HL, McNutt KW (eds) Sugars in nutrition. Academic Press, New York, pp 189–214
Flatz G (1984) Gene dosage effect on lactase activity demonstrated in vivo. Am J Hum Genet 36:306–310
Flatz G, Rotthauwe HW (1977) The human lactase polymorphism: physiology and genetics of lactase absorption and malabsorption. Prog Med Genet 2:205–249
Flatz G, Kühnau W, Naftali D (1984) Breath hydrogen test for lactose absorption capacity: importance of timing of hydrogen excretion and of high fasting hydrogen concentration. Am J Clin Nutr 39: 752–755
Gilat T, Benaroya Y, Gelman-Malachi E, Adam A (1973) Genetics of primary adult lactase deficiency. Gastroenterology 64:562–568
Haeckel R, Haeckel H (1972) The determination of glucose by the hexokinase method in 20 microliter samples of capillary blood, cerebrospinal fluid, or urine, using the Eppendorf automatic endpoint apparatus 5030. J Clin Chem Biochem 10:453–461
Ho MW, Povey S, Swallow D (1982) Lactase polymorphism in adult British natives: estimating allele frequencies by enzyme assays in autopsy samples. Am J Hum Genet 34:650–657
Howell JN, Von der Fecht R, Flatz G (1980) Hydrogen breath test for lactose tolerance adapted to population screening. Clin Chim Acta 103:229–231
Howell JN, Schockenhoff T, Flatz G (1981) Population screening for the adult lactase phenotypes with a multiple breaths version of the breath hydrogen test. Hum Genet 57:276–278
Isokoski M, Jussila J, Sarna S (1972) A simple screening method for lactose malabsorption. Gastroenterology 62:28–32
Johnson RC, Schwitters SY, Cole RE, Ahern FM, Au K (1981) A family study of lactose intolerance. Behav Genet 11:369–372
Li CC (1955) Population genetics. University of Chicago Press, Chicago, p 20
Lisker R, Gonzalez B, Daltabuit M (1975) Recessive inheritance of the adult type of lactase deficiency. Am J Hum Genet 27:662–664
Niu HC, Schoeller DA, KLein PD (1979) Improved gas chromatographic quantitation of breath hydrogen by normalization to respiratory carbon dioxide. J Lab Clin Med 94:755–763
Ransome-Kuti O, Kretschner N, Johnson JD, Gribble JT (1972) Family studies of lactose intolerance in Nigerian ethnic groups. Pediatr Res 6:359
Ransome-Kuti O, Kretschmer N, Johnson JD, Gribble JT (1975) A genetic study of lactose digestion in Nigerian families. Gastroenterology 68:431–436
Sahi T, Isokoski M, Jussila J, Launiala K, Pyörälä K (1973) Recessive inheritance of adult-type lactose malabsorption. Lancet 2:823–826
Vogel F, Motulsky AG (1979) Human geneticss, problems and approaches. Springer, Heidelberg, pp 586–590
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Métneki, J., Czeizel, A., Flatz, S.D. et al. A study of lactose absorption capacity in twins. Hum Genet 67, 296–300 (1984). https://doi.org/10.1007/BF00291356
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DOI: https://doi.org/10.1007/BF00291356