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Volumn 26, Issue 8, 1999, Pages 1802-1807

Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou)) from a Taiwanese aboriginal family with severe gout

Author keywords

Aborigines; Gout; HPRT; Hyperuricemia

Indexed keywords

AMINO ACID; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; URIC ACID;

EID: 0344549400     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (21)

References (32)
  • 1
    • 0014222377 scopus 로고
    • Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis
    • Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 1967;155:1682-4.
    • (1967) Science , vol.155 , pp. 1682-1684
    • Seegmiller, J.E.1    Rosenbloom, F.M.2    Kelley, W.N.3
  • 2
    • 0001168164 scopus 로고
    • A familial disorder of uric acid metabolism and central nervous system function
    • Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964;36:561-70.
    • (1964) Am J Med , vol.36 , pp. 561-570
    • Lesch, M.1    Nyhan, W.L.2
  • 4
    • 0025283215 scopus 로고
    • Automated DNA sequencing of the human HPRT locus
    • Edwards A, Voss H, Rice P, et al. Automated DNA sequencing of the human HPRT locus. Genomics 1990;6:593-608.
    • (1990) Genomics , vol.6 , pp. 593-608
    • Edwards, A.1    Voss, H.2    Rice, P.3
  • 5
    • 85069253810 scopus 로고
    • Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyltransferase
    • Pantel PI, Framson PE, Caskey CT, Chinault AC. Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyltransferase. Clin Chem Acta 1986;154:195-202.
    • (1986) Clin Chem Acta , vol.154 , pp. 195-202
    • Pantel, P.I.1    Framson, P.E.2    Caskey, C.T.3    Chinault, A.C.4
  • 6
    • 0020652713 scopus 로고
    • Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyltransferase
    • Jolly DJ, Okayama H, Berg P, et al. Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyltransferase. Proc Natl Acad Sci USA 1983;80:477-81.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 477-481
    • Jolly, D.J.1    Okayama, H.2    Berg, P.3
  • 7
    • 0029319761 scopus 로고
    • Body mass index and hyperuricemia differences between aboriginal and non-aboriginal children in Taiwan
    • Chang FZ, Chang SJ, Wu YY, Wang TN, Ko YC. Body mass index and hyperuricemia differences between aboriginal and non-aboriginal children in Taiwan. Kaohsiung J Med Sci 1995;11:315-21.
    • (1995) Kaohsiung J Med Sci , vol.11 , pp. 315-321
    • Chang, F.Z.1    Chang, S.J.2    Wu, Y.Y.3    Wang, T.N.4    Ko, Y.C.5
  • 9
    • 0026788309 scopus 로고
    • Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites
    • Chang JG, Chen PH, Chiou SS, Lee LS, Perng LI, Liu TC. Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites. Blood 1992;80:2092-6.
    • (1992) Blood , vol.80 , pp. 2092-2096
    • Chang, J.G.1    Chen, P.H.2    Chiou, S.S.3    Lee, L.S.4    Perng, L.I.5    Liu, T.C.6
  • 13
    • 0027102048 scopus 로고
    • A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: Missense mutations within a functionally important region probably cause disease
    • Fujimori S, Tagaya T, Kamatani N, Akaoka I. A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease. Hum Genet 1992;90:385-8.
    • (1992) Hum Genet , vol.90 , pp. 385-388
    • Fujimori, S.1    Tagaya, T.2    Kamatani, N.3    Akaoka, I.4
  • 17
  • 18
    • 0025906669 scopus 로고
    • Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency
    • Davidson BL, Tarle SA, Van Antwerp MV, et al. Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency. Am J Hum Genet 1991;48:951-8.
    • (1991) Am J Hum Genet , vol.48 , pp. 951-958
    • Davidson, B.L.1    Tarle, S.A.2    Van Antwerp, M.V.3
  • 22
    • 0020687351 scopus 로고
    • Human hypoxanthine (guanine) phosphoribosyltransferase: An amino acid substitution in a mutant form of the enzyme isolated from a patient with gout
    • Wilson JM, Tarr GE, Kelley WN. Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. Proc Natl Acad Sci USA 1983;80:870-3.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 870-873
    • Wilson, J.M.1    Tarr, G.E.2    Kelley, W.N.3
  • 24
    • 0028049335 scopus 로고
    • Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line
    • Tohyama J, Nanba E, Ohno K. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line. Hum Genet 1994;93:175-81.
    • (1994) Hum Genet , vol.93 , pp. 175-181
    • Tohyama, J.1    Nanba, E.2    Ohno, K.3
  • 26
    • 0019991437 scopus 로고
    • Gout with superactive phosphoribosyl pyrophosphate synthetase due to increased enzyme catalytic rate
    • Becker MA, Losman MJ, Itkin P, Simkin PA. Gout with superactive phosphoribosyl pyrophosphate synthetase due to increased enzyme catalytic rate. J Lab Clin Med 1982;99:495-511.
    • (1982) J Lab Clin Med , vol.99 , pp. 495-511
    • Becker, M.A.1    Losman, M.J.2    Itkin, P.3    Simkin, P.A.4
  • 27
    • 0023665206 scopus 로고
    • Regulation of purine synthesis de novo in human fibroblasts by purine nucleotides and phosphoribosylpyrophosphate
    • Becker MA, Kim M. Regulation of purine synthesis de novo in human fibroblasts by purine nucleotides and phosphoribosylpyrophosphate. J Biol Chem 1987;262:14531-7.
    • (1987) J Biol Chem , vol.262 , pp. 14531-14537
    • Becker, M.A.1    Kim, M.2
  • 28
    • 0029786659 scopus 로고    scopus 로고
    • Overexpression of the normal phosphoribosylpyrophosphate synthetase I isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase
    • Becker MA, Taylor W, Smith PR, Ahmed M. Overexpression of the normal phosphoribosylpyrophosphate synthetase I isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. J Biol Chem 1996;271:19894-9.
    • (1996) J Biol Chem , vol.271 , pp. 19894-19899
    • Becker, M.A.1    Taylor, W.2    Smith, P.R.3    Ahmed, M.4
  • 29
    • 0040653159 scopus 로고
    • The Austronesian dispersal and the origin of languages
    • Bellwood P The Austronesian dispersal and the origin of languages. Sci Am 1991;265:70-5.
    • (1991) Sci Am , vol.265 , pp. 70-75
    • Bellwood, P.1
  • 30
    • 0014012804 scopus 로고
    • Hyperuricemia, gout and diabetic abnormality in Polynesian people
    • Prior IA, Rose BS, Harvey HP, Davidson F. Hyperuricemia, gout and diabetic abnormality in Polynesian people. Lancet 1966;1:333-8.
    • (1966) Lancet , vol.1 , pp. 333-338
    • Prior, I.A.1    Rose, B.S.2    Harvey, H.P.3    Davidson, F.4
  • 31
    • 0019863140 scopus 로고
    • Epidemiology of rheumatic disorders in the Pacific with particular emphasis in hyperuricemia and gout
    • Prior IA. Epidemiology of rheumatic disorders in the Pacific with particular emphasis in hyperuricemia and gout. Semin Arthritis Rheum 1981;11:213-29.
    • (1981) Semin Arthritis Rheum , vol.11 , pp. 213-229
    • Prior, I.A.1
  • 32
    • 0026472648 scopus 로고
    • The epidemiology of gout and hyperuricemia in a rural population of Java
    • Darmawan J, Valkenburg HA, Muirden KD, Wigley RD. The epidemiology of gout and hyperuricemia in a rural population of Java. J Rheumatol 1992;19:1595-9.
    • (1992) J Rheumatol , vol.19 , pp. 1595-1599
    • Darmawan, J.1    Valkenburg, H.A.2    Muirden, K.D.3    Wigley, R.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.