메뉴 건너뛰기




Volumn 100, Issue 1, 1997, Pages 104-108

An unusual combined insertion/deletion polymorphism in intron 10 of the human complement C6 gene

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C6;

EID: 0030877632     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050474     Document Type: Article
Times cited : (5)

References (33)
  • 1
    • 0021109011 scopus 로고
    • Characterization of an unusual DNA length polymorphism 5′ to the human antithrombin III gene
    • Bock SC, Levitan DJ (1983) Characterization of an unusual DNA length polymorphism 5′ to the human antithrombin III gene. Nucleic Acids Res 11:8569-8582
    • (1983) Nucleic Acids Res , vol.11 , pp. 8569-8582
    • Bock, S.C.1    Levitan, D.J.2
  • 3
    • 0025744705 scopus 로고
    • Mechanisms of insertional mutagenesis in human genes causing genetic disease
    • Cooper DN, Krawczak M (1991) Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 87:409-415
    • (1991) Hum Genet , vol.87 , pp. 409-415
    • Cooper, D.N.1    Krawczak, M.2
  • 4
    • 0029009380 scopus 로고
    • Length polymorphism of the human complement component C4 gene is due to an ancient retroviral integration
    • Chu X, Rittner C, Schneider PM (1995) Length polymorphism of the human complement component C4 gene is due to an ancient retroviral integration. Exp Clin Immunogenet 12:74-81
    • (1995) Exp Clin Immunogenet , vol.12 , pp. 74-81
    • Chu, X.1    Rittner, C.2    Schneider, P.M.3
  • 5
    • 0028063699 scopus 로고
    • The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates
    • Dangel AW, Mendoza AR, Baker BJ, Daniel CM, Carroll MC, Wu LC, Yu CY (1994) The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates. Immunogenetics 40:425-436
    • (1994) Immunogenetics , vol.40 , pp. 425-436
    • Dangel, A.W.1    Mendoza, A.R.2    Baker, B.J.3    Daniel, C.M.4    Carroll, M.C.5    Wu, L.C.6    Yu, C.Y.7
  • 6
    • 0024421491 scopus 로고
    • The molecular architecture of human complement C6
    • DiScipio RG, Hugli TE (1989) The molecular architecture of human complement C6. J Biol Chem 264:16197-16206
    • (1989) J Biol Chem , vol.264 , pp. 16197-16206
    • DiScipio, R.G.1    Hugli, T.E.2
  • 9
    • 0029876008 scopus 로고    scopus 로고
    • A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 M/N polymorphism
    • Fernie BA, Würzner R, Orren A, Hobart MJ (1996a) A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 M/N polymorphism. Ann Hum Genet 60:179-182
    • (1996) Ann Hum Genet , vol.60 , pp. 179-182
    • Fernie, B.A.1    Würzner, R.2    Orren, A.3    Hobart, M.J.4
  • 11
    • 0001774799 scopus 로고
    • Polymorphism
    • Ford EB (1945) Polymorphism. Biol Rev 20:73-88
    • (1945) Biol Rev , vol.20 , pp. 73-88
    • Ford, E.B.1
  • 13
    • 0029082087 scopus 로고
    • Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia
    • Geisel J, Holzem G, Oette K (1995) Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. Hum Genet 96:301-304
    • (1995) Hum Genet , vol.96 , pp. 301-304
    • Geisel, J.1    Holzem, G.2    Oette, K.3
  • 15
    • 1842267323 scopus 로고
    • Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA
    • Gibbs RA, Nguyen P-N, McBride LJ, Koepf SM, Caskey CT (1989) Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci USA 86:1919-1923
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 1919-1923
    • Gibbs, R.A.1    Nguyen, P.-N.2    McBride, L.J.3    Koepf, S.M.4    Caskey, C.T.5
  • 16
    • 0024448568 scopus 로고
    • Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6
    • Haefliger J-A, Tschopp J, Vial N, Jenne DE (1989) Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6. J Biol Chem 264: 18041-18051
    • (1989) J Biol Chem , vol.264 , pp. 18041-18051
    • Haefliger, J.-A.1    Tschopp, J.2    Vial, N.3    Jenne, D.E.4
  • 17
    • 0018139588 scopus 로고
    • Inherited structural variation and linkage relationships of C7
    • Hobart MJ, Joysey V, Lachmann PJ (1978) Inherited structural variation and linkage relationships of C7. J Immunogenet 5: 257-163
    • (1978) J Immunogenet , vol.5 , pp. 257-1163
    • Hobart, M.J.1    Joysey, V.2    Lachmann, P.J.3
  • 19
    • 0027255129 scopus 로고
    • A large-scale molecular map of the C6 and C7 complement component gene region on chromosome 5p13
    • Hobart MJ, Fernie BA, DiScipio RG, Lachmann PJ (1993b) A large-scale molecular map of the C6 and C7 complement component gene region on chromosome 5p13. Hum Mol Genet 2:1035-1036
    • (1993) Hum Mol Genet , vol.2 , pp. 1035-1036
    • Hobart, M.J.1    Fernie, B.A.2    DiScipio, R.G.3    Lachmann, P.J.4
  • 20
    • 0029060839 scopus 로고
    • Structure of the human C7 gene and comparison with the C6, C8A, C8B and C9 genes
    • Hobart MJ, Fernie BA, DiScipio RG (1995) Structure of the human C7 gene and comparison with the C6, C8A, C8B and C9 genes. J Immunol 154:5188-5194
    • (1995) J Immunol , vol.154 , pp. 5188-5194
    • Hobart, M.J.1    Fernie, B.A.2    DiScipio, R.G.3
  • 21
    • 0018664648 scopus 로고
    • Aγand β-globin genes of man
    • Aγand β-globin genes of man. Cell 18:1-10
    • (1979) Cell , vol.18 , pp. 1-10
    • Jeffreys, A.J.1
  • 23
    • 0025762012 scopus 로고
    • Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
    • Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441
    • (1991) Hum Genet , vol.86 , pp. 425-441
    • Krawczak, M.1    Cooper, D.N.2
  • 24
    • 0020560127 scopus 로고
    • Nucleotide polymorphism at the alcohol dehydrogenase locus of Drosophila melanogaster
    • Kreitman M (1983) Nucleotide polymorphism at the alcohol dehydrogenase locus of Drosophila melanogaster. Nature 304:412-417
    • (1983) Nature , vol.304 , pp. 412-417
    • Kreitman, M.1
  • 25
    • 0029012447 scopus 로고
    • Linkage disequilibrium between two loci (5′ untranslated exon 1 and intron 5 - Dde I) of the antithrombin III gene in three ethnic groups in Singapore
    • Liu Y, Saha N, Low PS, Tay JSH (1995) Linkage disequilibrium between two loci (5′ untranslated exon 1 and intron 5 - Dde I) of the antithrombin III gene in three ethnic groups in Singapore. Hum Hered 45:192-198
    • (1995) Hum Hered , vol.45 , pp. 192-198
    • Liu, Y.1    Saha, N.2    Low, P.S.3    Tay, J.S.H.4
  • 26
    • 0019492995 scopus 로고
    • Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid protein
    • Merril CR, Goldman D, Sedman SA, Ebert MH (1981) Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid protein. Science 211:1437-1438
    • (1981) Science , vol.211 , pp. 1437-1438
    • Merril, C.R.1    Goldman, D.2    Sedman, S.A.3    Ebert, M.H.4
  • 28
    • 0029121279 scopus 로고
    • Homozygous deletions of p16/MTS1 gene are frequent but mutations are infrequent in childhood T-cell acute lymphoblastic leukemia
    • Ohnishi H, Kawamura M, Ida K, Sheng XM, Hanada R, Nobori T, Yamamori S, Hayashi Y (1995) Homozygous deletions of p16/MTS1 gene are frequent but mutations are infrequent in childhood T-cell acute lymphoblastic leukemia. Blood 86: 1269-1275
    • (1995) Blood , vol.86 , pp. 1269-1275
    • Ohnishi, H.1    Kawamura, M.2    Ida, K.3    Sheng, X.M.4    Hanada, R.5    Nobori, T.6    Yamamori, S.7    Hayashi, Y.8
  • 29
    • 0029151713 scopus 로고
    • Molecular events underlying schistosomiasis-related bladder cancer
    • Ramchurrcn N, Cooper K, Summerhayes IC (1995) Molecular events underlying schistosomiasis-related bladder cancer. Int J Cancer 62:237-244
    • (1995) Int J Cancer , vol.62 , pp. 237-244
    • Ramchurrcn, N.1    Cooper, K.2    Summerhayes, I.C.3
  • 31
    • 0028609762 scopus 로고
    • Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K (C4), located in the complement C4 gene cluster
    • Tassabehji M, Strachan T, Anderson M, Campbell RD (1994) Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K (C4), located in the complement C4 gene cluster. Nucleic Acids Res 22:5211-5217
    • (1994) Nucleic Acids Res , vol.22 , pp. 5211-5217
    • Tassabehji, M.1    Strachan, T.2    Anderson, M.3    Campbell, R.D.4
  • 32
    • 0028242364 scopus 로고
    • A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region
    • Yamakawa-Kobayashi K, Kobayashi T, Yanagi H, Shimakura Y, Satoh J, Hamaguchi H (1994) A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region. Hum Genet 93:625-628
    • (1994) Hum Genet , vol.93 , pp. 625-628
    • Yamakawa-Kobayashi, K.1    Kobayashi, T.2    Yanagi, H.3    Shimakura, Y.4    Satoh, J.5    Hamaguchi, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.