原发性乳糖酶缺乏的流行病学及分子生物学的研究进展

周兰兰, 张玉英, 刘娜, 李书伟, 刘阳洋, 仰曙芬

中国儿童保健杂志 ›› 2014, Vol. 22 ›› Issue (8) : 836-838.

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中国儿童保健杂志 ›› 2014, Vol. 22 ›› Issue (8) : 836-838. DOI: 10.11852/zgetbjzz2014-22-08-16
综述与讲座

原发性乳糖酶缺乏的流行病学及分子生物学的研究进展

  • 周兰兰, 张玉英, 刘娜, 李书伟, 刘阳洋, 仰曙芬
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摘要

乳糖酶缺乏(lactase deficiency , LD)是个世界性问题, LD会造成乳糖吸收不良, 对人类的健康造成很大的威胁。原发性乳糖酶缺乏(adult-type hypolactasia, ATH)是最常见的类型, 属于常染色体隐性遗传, 但ATH中乳糖酶活性下降的遗传及调节机尚不明确。目前研究发现:-13910C/T、-14010G/C、-22018G/A等突变点与ATH发生相关;Oct-1 、Cdx2、GATA-4, -5, 6、HNF-1等因子参与乳糖酶活性的调节。

关键词

原发性乳糖酶缺乏 / 基因 / 启动子 / 乳糖酶

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周兰兰, 张玉英, 刘娜, 李书伟, 刘阳洋, 仰曙芬. 原发性乳糖酶缺乏的流行病学及分子生物学的研究进展[J]. 中国儿童保健杂志. 2014, 22(8): 836-838 https://doi.org/10.11852/zgetbjzz2014-22-08-16
中图分类号: R153.2   

参考文献

[1] Olds LC, Sibley E.Lactase persistence DNA variant enhances lactase promoter activity in vitro:functional role as acis regulatory element[J].Hum Mol Genet, 2003, 12:2333-2340.
[2] Enattah NS, Sahi T, Savilahti E, et al.Identification of a variant associated with adult-type hypolactasia[J].Nat Genet, 2002, 30:233-237.
[3] Burger J, Kirchner M, Bramanti B, et al.Absence of the lactase-persistence-associated allele in early Neolithic Europeans[J].Proc Natl Acad Sci USA, 2007, 104:3736-3741.
[4] Mottes M, Belpinati F, Milani M, et al.Genetic testing for adult-type hypolactasia in Italian families[J].Clin Chem Lab Med, 2008, 46(7):980-984.
[5] Mattar R, Monteiro MS, Villares CA, et al.Singlenucleotide polymorphism C/T-13910, located upstream of the lactase gene, associated with adult-type hypolactasia:valida-tion for clinical practice[J].Clin Biochem, 2008, 41:628-630.
[6] Mattar R, Monteiro MS, Villares CA, et al.Frequency of LCT -13910C>T single nucleotide polymorphism with adult-type hypolactasia/lactase persistence among Brazilians of different ethnic groups[J].Nutrition Journal, 2009, 8:46-55.
[7] Mαdry E, Lisowska A, Kwiecień J, et al.Adult-type hypolactasia and lactose malabsorption in Poland[J].Acta Biochimica Polonica, 2010, 57(4):585-588.
[8] Manco L, Pires S, Lopes A, et al.Distribution of the -13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption[J].Annals of Human Biology March, 2013, 40(2):205-208.
[9] Tishkoff SA, Reed FA, Ranciaro A, et al.Convergent adaptation of human lactase persistence in Africa and Europe[J].Nat Genet, 2007, 39:31-40.
[10] Ingram CJ, Elamin MF, Mulcare CA, et al.A novel polymorphism associated withlactose tolerance in Africa:multiple causes for lactase persistence?[J].Hum Genet, 2007, 120:779-788.
[11] Raz M, Sharon Y, Yerushalmi B, et al.Frequency of LCT-13910C/T and LCT-22018G/A single nucleotide polymorphismsassociated with adult-type hypolactasia/lactase persistence among Israelis of different ethnic groups[J].Gene, 2013, 519:67-70.
[12] Al-Abri A, Bayoumi R.The phenotype/genotype correlation of lactase persistence among omani adu lts[J].Oman Medical Journal, 2013, 28(5):341-344.
[13] Kuchay RAH, Anwar M, Thapa BR, et al.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[J].Genes Nutr, 2013, 8:145-151.
[14] Xu L, Sun H, Zhang X, et al.The -22018Aallele matches the lactase persistence phenotype in northern Chinese populations[J].Scand J Gastroenterol, 2010, 45:168-174.
[15] Mattar R, Monteiro Mdo S, Silva JM, et al.LCT-22018G>A single nucleotide polymorphism is abetter predictor of adult-type hypolactasia/lactasepersistence in Japanese-Brazilians than LCT-13910C/T[J].Clinics, 2010, 65(12):1399-1400.
[16] Peng MS, He JD, Zhu CL, et al.Lactase persistence may have an independent origin in Tibetan populations from Tibet, China[J].J Hum Genet, 2012, 57(6):394-397.
[17] Choi BJ, Yoon JH, Choi YJ, et al.No association of LCT-13910 single nucleotide polymorphismwith gastroenteritis in Korean children[J].Mol Cell Toxicol, 2013, 9:23-28.
[18] Rings EH, Krasinski SD, van Beers EH, et al.Restriction of lactase geneexpression along the proximal-to-distal axis of rat small intestine occurs during postnatal development[J].Gastroenterology, 1994, 106:1223-1232.
[19] Troelsen JT.Adult typehy polactasia and regulation of lactase expression[J].Biochim Biophys Acta, 2005, 1723:19-32.
[20] Bersaglieri T, Sabeti PC, Patterson N, et al.Geneticsignatures of strong recent positive selection at the lactase gene[J].Am J Hum Genet, 2004, 74:1111-1120.
[21] Lewinsky RH, Jensen TGK, Moller J, et al.T-13910DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro[J].Human Molecular Genetics, 2005, 14(24):3945-3953.
[22] Jensen TG, Liebert A, Lewinsky R, et al.The -14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity[J].Hum Genet, 2011, 130:483-493.
[23] Olds LC, Ahn JK, Sibley E.-13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1[J].Hum Genet, 2011, 129:111-113.

基金

哈尔滨市科技创新人才项目(RC2012XK004070)

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