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1
Gene-dosage effect on intestinal lactase activity demonstrated in vivo.体内证实的基因剂量对肠道乳糖酶活性的影响。
Am J Hum Genet. 1984 Mar;36(2):306-10.
2
Lactase polymorphism in adult British natives: estimating allele frequencies by enzyme assays in autopsy samples.英国成年本土居民的乳糖酶多态性：通过尸检样本中的酶测定估算等位基因频率。
Am J Hum Genet. 1982 Jul;34(4):650-7.
3
Intestinal disaccharidase activities and activity ratios in a group of 60 adult German subjects.一组60名成年德国受试者的肠道双糖酶活性及活性比率。
Hepatogastroenterology. 1980 Jun;27(3):208-12.
4
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Dietary regulation of intestinal lactase and sucrase in adult rats: quantitative comparison of effect of lactose and sucrose.成年大鼠肠道乳糖酶和蔗糖酶的饮食调节：乳糖和蔗糖作用的定量比较
J Pediatr Gastroenterol Nutr. 1985 Dec;4(6):998-1008. doi: 10.1097/00005176-198512000-00024.
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Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies.先天性麦芽糖酶-葡糖淀粉酶缺乏症伴乳糖酶和蔗糖酶缺乏症。
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Demonstration of a difference in expression of maximal lactase and sucrase activity along the villus in the adult rat jejunum.成年大鼠空肠绒毛不同部位乳糖酶和蔗糖酶最大活性表达差异的证实。
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10
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Ann Hum Genet. 2016 Nov;80(6):307-318. doi: 10.1111/ahg.12167. Epub 2016 Oct 7.
2
Correlation of G/A -22018 single-nucleotide polymorphism with lactase activity and its usefulness in improving the diagnosis of adult-type hypolactasia among North Indian children.G/A-22018 单核苷酸多态性与乳糖酶活性的相关性及其在提高北印度儿童成人型乳糖不耐受诊断中的应用。
Genes Nutr. 2013 Jan;8(1):145-51. doi: 10.1007/s12263-012-0305-7. Epub 2012 Jul 5.
3
Lactose digestion and the evolutionary genetics of lactase persistence.乳糖消化与乳糖酶持久性的进化遗传学
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4
Morphological method for the diagnosis of human adult type hypolactasia.诊断成人型低乳糖酶症的形态学方法
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A study of lactose absorption capacity in twins.一项关于双胞胎乳糖吸收能力的研究。
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6
Evidence for a possible regulatory gene (Suc-1) controlling sucrase expression in mouse intestine.存在一种可能控制小鼠肠道蔗糖酶表达的调控基因（Suc-1）的证据。
Biochem Genet. 1986 Apr;24(3-4):169-81. doi: 10.1007/BF00502786.
7
Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats.人类成人型乳糖不耐受以及断奶期兔和大鼠中乳糖酶的调控。
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本文引用的文献

1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
Distribution of physiological adult lactase phenotypes, lactose absorber and malabsorber, in Germany.德国生理状态下成年乳糖酶表型（乳糖吸收者和乳糖吸收不良者）的分布情况。
Hum Genet. 1982;62(2):152-7. doi: 10.1007/BF00282305.
3
Lactase polymorphism in adult British natives: estimating allele frequencies by enzyme assays in autopsy samples.英国成年本土居民的乳糖酶多态性：通过尸检样本中的酶测定估算等位基因频率。
Am J Hum Genet. 1982 Jul;34(4):650-7.
4
Population screening for the human adult lactase phenotypes with a multiple breath version of the breath hydrogen test.
Hum Genet. 1981;57(3):276-8.
5
Disaccharidase activity in the small intestine: prevalence of lactase deficiency in 100 healthy subjects.小肠中的双糖酶活性：100名健康受试者中乳糖酶缺乏症的患病率。
Gastroenterology. 1967 Dec;53(6):881-9.
6
Assay of intestinal disaccharidases.肠道双糖酶测定
Anal Biochem. 1968 Jan;22(1):99-107. doi: 10.1016/0003-2697(68)90263-7.
7
Human small intestine -galactosidases: specific assay of three different enzymes.人类小肠β-半乳糖苷酶：三种不同酶的特异性测定
Anal Biochem. 1972 Jun;47(2):527-38. doi: 10.1016/0003-2697(72)90147-9.
8
The inheritance of selective adult-type lactose malabsorption.选择性成人型乳糖吸收不良的遗传
Scand J Gastroenterol Suppl. 1974;30:1-73.
9
Purification of the human intestinal brush border membrane.人小肠刷状缘膜的纯化
Biochim Biophys Acta. 1973 Sep 27;323(1):98-112. doi: 10.1016/0005-2736(73)90434-3.
10
Genetic aetiology of lactose intolerance.乳糖不耐受的遗传病因。
Lancet. 1967 Jul 22;2(7508):188-90. doi: 10.1016/s0140-6736(67)90009-8.

体内证实的基因剂量对肠道乳糖酶活性的影响。

Gene-dosage effect on intestinal lactase activity demonstrated in vivo.

作者信息

Flatz G

出版信息

Am J Hum Genet. 1984 Mar;36(2):306-10.

PMID:6424439
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684433/
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.

摘要

在65名健康成年德国男性的空肠上段活检组织中测定了乳糖酶、麦芽糖酶和蔗糖酶这三种双糖酶的活性。该研究旨在证明德国人群中存在“乳糖酶缺乏”（l）和“乳糖酶持续存在”（L）等位基因时，对乳糖酶活性预期的基因剂量效应。与乳糖酶/蔗糖酶比率不同，乳糖/麦芽糖比率在假定基因型LL、Ll和ll的比例中呈现出符合哈迪-温伯格平衡的三峰分布。纯合子ll的频率（13.8%）与文献报道的德国乳糖吸收不良者的平均频率相似。讨论了在乳糖酶活性人群研究中考虑乳糖酶基因剂量效应的重要性。