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Volumn 67, Issue 4, 2003, Pages 298-311

The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans

Author keywords

[No Author keywords available]

Indexed keywords

LACTASE; LACTOSE; PRIMER DNA;

EID: 0344375110     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.2003.00048.x     Document Type: Article
Times cited : (111)

References (25)
  • 1
    • 0025882118 scopus 로고
    • Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase
    • Boll, W., Wagner, P. & Mantei, N. (1991) Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase. Am J Hum Genet 48, 889-902.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 889-902
    • Boll, W.1    Wagner, P.2    Mantei, N.3
  • 2
    • 0010106732 scopus 로고    scopus 로고
    • Regulation of human lactase phlorizin hydrolase (LPH) gene by proteins binding to sites 5′ to the Alu sequence
    • Chitkara, D. K., Krasinski, S. D., Grand, R. J. & Montgomery, R. K. (2001) Regulation of human lactase phlorizin hydrolase (LPH) gene by proteins binding to sites 5′ to the Alu sequence. Gastroenterology 120, A304.
    • (2001) Gastroenterology , vol.120
    • Chitkara, D.K.1    Krasinski, S.D.2    Grand, R.J.3    Montgomery, R.K.4
  • 3
    • 0025280026 scopus 로고
    • Centre d'etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome
    • Dausset, J., Cann, H., Cohen, D., Lathrop, M., Lalouel, J. M. & White, R. (1990) Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics 6, 575-7.
    • (1990) Genomics , vol.6 , pp. 575-577
    • Dausset, J.1    Cann, H.2    Cohen, D.3    Lathrop, M.4    Lalouel, J.M.5    White, R.6
  • 5
    • 0027516716 scopus 로고
    • Expression of human aspartyl-tRNA synthetase in Escherichia coli. Functional analysis of the N-terminal putative amphiphilic helix
    • Escalante, C. & Yang, D. C. (1993) Expression of human aspartyl-tRNA synthetase in Escherichia coli. Functional analysis of the N-terminal putative amphiphilic helix. J Biol Chem 268, 6014-23.
    • (1993) J. Biol. Chem. , vol.268 , pp. 6014-6023
    • Escalante, C.1    Yang, D.C.2
  • 6
    • 0021332361 scopus 로고
    • Gene-dosage effect on intestinal lactase activity demonstrated in vivo
    • Flatz, G. (1984) Gene-dosage effect on intestinal lactase activity demonstrated in vivo. Am J Hum Genet 36, 306-10.
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 306-310
    • Flatz, G.1
  • 8
    • 0028915875 scopus 로고
    • DNA polymorphisms in the lactase gene: Linkage disequilibrium across the 70 kb region
    • Harvey, C. B., Pratt, W., Islam, I., Whitehouse, D. B. & Swallow, D. M. (1995a) DNA polymorphisms in the lactase gene: linkage disequilibrium across the 70 kb region. Eur J Hum Genet 3, 27-41.
    • (1995) Eur. J. Hum. Genet. , vol.3 , pp. 27-41
    • Harvey, C.B.1    Pratt, W.2    Islam, I.3    Whitehouse, D.B.4    Swallow, D.M.5
  • 9
    • 0030566803 scopus 로고    scopus 로고
    • Characterisation of a human homologue of a yeast cell division cycle gene, MCM6, located adjacent to the 5′ end of the lactase gene on chromosome 2q21
    • Harvey, C. B., Wang, Y., Darmoul, D., Phillips, A., Mantei, N. & Swallow, D. M. (1996) Characterisation of a human homologue of a yeast cell division cycle gene, MCM6, located adjacent to the 5′ end of the lactase gene on chromosome 2q21. FEBS Letters 398, 135-140.
    • (1996) FEBS Letters , vol.398 , pp. 135-140
    • Harvey, C.B.1    Wang, Y.2    Darmoul, D.3    Phillips, A.4    Mantei, N.5    Swallow, D.M.6
  • 11
    • 0019973492 scopus 로고
    • Lactase polymorphism in adult British natives: Estimating allele frequencies by enzyme assays in autopsy samples
    • Ho, M. W., 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, 650-7.
    • (1982) Am. J. Hum. Genet. , vol.34 , pp. 650-657
    • Ho, M.W.1    Povey, S.2    Swallow, D.3
  • 12
    • 0032722506 scopus 로고    scopus 로고
    • Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions
    • Hollox, E. J., Poulter, M., Wang, Y., Krause, A. & Swallow, D. M. (1999) Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions. Eur J Hum Genet 7, 791-800.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 791-800
    • Hollox, E.J.1    Poulter, M.2    Wang, Y.3    Krause, A.4    Swallow, D.M.5
  • 14
    • 1642586712 scopus 로고    scopus 로고
    • Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
    • Jarvela, I., Sabri Enattah, N., Kokkonen, J., Varilo, T., Savilahti, E. & Peltonen, L. (1998) Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Am J Hum Genet 63, 1078-85.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1078-1085
    • Jarvela, I.1    Sabri Enattah, N.2    Kokkonen, J.3    Varilo, T.4    Savilahti, E.5    Peltonen, L.6
  • 15
    • 0031801662 scopus 로고    scopus 로고
    • Comparison of a portable breath hydrogen analyser (Micro H2) with a Quintron MicroLyzer in measuring lactose maldigestion, and the evaluation of a Micro H2 for diagnosing hypolactasia
    • Peuhkuri, K., Poussa, T. & Korpela, R. (1998) Comparison of a portable breath hydrogen analyser (Micro H2) with a Quintron MicroLyzer in measuring lactose maldigestion, and the evaluation of a Micro H2 for diagnosing hypolactasia. Scand J Clin Lab Invest 58, 217-24.
    • (1998) Scand. J. Clin. Lab. Invest. , vol.58 , pp. 217-224
    • Peuhkuri, K.1    Poussa, T.2    Korpela, R.3
  • 17
    • 0034089033 scopus 로고    scopus 로고
    • Balancing selection at closely linked, over-dominant loci in a finite population
    • Slatkin, M. (2000) Balancing selection at closely linked, over-dominant loci in a finite population. Genetics 154, 1367-78.
    • (2000) Genetics , vol.154 , pp. 1367-1378
    • Slatkin, M.1
  • 18
    • 0034976976 scopus 로고    scopus 로고
    • The use of intraallelic variability for testing neutrality and estimating population growth rate
    • Slatkin, M. & Bertorelle, G. (2001) The use of intraallelic variability for testing neutrality and estimating population growth rate. Genetics 158, 865-74.
    • (2001) Genetics , vol.158 , pp. 865-874
    • Slatkin, M.1    Bertorelle, G.2
  • 19
    • 0005264308 scopus 로고    scopus 로고
    • The genetic polymorphism of intestinal lactase activity in adult humans
    • Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. (eds) McGraw-Hill, New York
    • Swallow, D. M. & Hollox, E. J. (2000) The genetic polymorphism of intestinal lactase activity in adult humans. In: Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York.
    • (2000) The Metabolic and Molecular Bases of Inherited Disease
    • Swallow, D.M.1    Hollox, E.J.2
  • 20
    • 0033372004 scopus 로고    scopus 로고
    • High throughput analysis of 10 microsatellite and 11 diallelic polymorphisms on the human Y-chromosome
    • Thomas, M. G., Bradman, N. & Flinn, H. M. (1999) High throughput analysis of 10 microsatellite and 11 diallelic polymorphisms on the human Y-chromosome. Hum Genet 105, 577-81.
    • (1999) Hum. Genet. , vol.105 , pp. 577-581
    • Thomas, M.G.1    Bradman, N.2    Flinn, H.M.3
  • 21
    • 0028111954 scopus 로고
    • Expression of intestinal mRNA transcripts during development: Analysis by a semi-quantitative RNA PCR method
    • Wang, Y., Harvey, C., Rousset, M. & Swallow, D. (1994) Expression of intestinal mRNA transcripts during development: analysis by a semi-quantitative RNA PCR method. Ped Res 36, 514-521.
    • (1994) Ped. Res. , vol.36 , pp. 514-521
    • Wang, Y.1    Harvey, C.2    Rousset, M.3    Swallow, D.4
  • 24
    • 0032549021 scopus 로고    scopus 로고
    • Genomic organization and functional characterization of the chemokine receptor CXCR4, a major entry co-receptor for human immunodeficiency virus type 1
    • Wegner, S. A., Ehrenberg, P. K., Chang, G., Dayhoff, D. E., Sleeker, A. L. & Michael, N. L. (1998) Genomic organization and functional characterization of the chemokine receptor CXCR4, a major entry co-receptor for human immunodeficiency virus type 1. J Biol Chem 273, 4754-60.
    • (1998) J. Biol. Chem. , vol.273 , pp. 4754-4760
    • Wegner, S.A.1    Ehrenberg, P.K.2    Chang, G.3    Dayhoff, D.E.4    Sleeker, A.L.5    Michael, N.L.6
  • 25
    • 0037976417 scopus 로고    scopus 로고
    • An efficient procedure for genotyping single nucleotide polymorphisms
    • Ye, S., Dhillon, S., Ke, X. & Collins A. R., Day IN (2001) An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res 29, E88-8.
    • (2001) Nucleic Acids Res. , vol.29
    • Ye, S.1    Dhillon, S.2    Ke, X.3    Collins, A.R.4    Day, I.N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.