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Volumn 10, Issue 3, 1996, Pages 213-218

Molecular characterization of Fanconi anaemia group C (FAC) gene polymorphisms

Author keywords

CA repeat; Fanconi anaemia; Linkage analysis; Polymorphism

Indexed keywords

DNA MARKER; MICROSATELLITE DNA;

EID: 0030001253     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1996.0029     Document Type: Article
Times cited : (6)

References (29)
  • 1
    • 0028109326 scopus 로고
    • Fanconi anemia and novel strategies for therapy
    • Liu, J. M., Buchwald, M., Walsh, C. E. & Young, N. S. (1994). Fanconi anemia and novel strategies for therapy. Blood 84, 3995-4007.
    • (1994) Blood , vol.84 , pp. 3995-4007
    • Liu, J.M.1    Buchwald, M.2    Walsh, C.E.3    Young, N.S.4
  • 2
    • 0028944751 scopus 로고
    • Fanconi anaemia research: Current status and prospects
    • Joenje, H., Mathew, C. & Gluckman, E. (1995). Fanconi anaemia research: current status and prospects. European Journal of Cancer 31A, 268-72.
    • (1995) European Journal of Cancer , vol.31 A , pp. 268-272
    • Joenje, H.1    Mathew, C.2    Gluckman, E.3
  • 3
    • 0026878842 scopus 로고
    • Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9
    • Strathdee, C. A., Duncan, A. M. V. & Buchwald, M. (1992). Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genetics 1, 196-8.
    • (1992) Nature Genetics , vol.1 , pp. 196-198
    • Strathdee, C.A.1    Duncan, A.M.V.2    Buchwald, M.3
  • 4
    • 0029163523 scopus 로고
    • Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype
    • Joenje, H., Lo Ten Foe, J. R., Oostra, A. B. et al. (1995). Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86, 2156-60.
    • (1995) Blood , vol.86 , pp. 2156-2160
    • Joenje, H.1    Lo Ten Foe, J.R.2    Oostra, A.B.3
  • 6
    • 0029410634 scopus 로고
    • Complementation groups: One or more per gene?
    • Buchwald, M. (1995). Complementation groups: one or more per gene? Nature Genetics 11, 228-30.
    • (1995) Nature Genetics , vol.11 , pp. 228-230
    • Buchwald, M.1
  • 7
    • 0026521238 scopus 로고
    • Cloning of cDNAs for Fanconi's anaemia by functional complementation
    • Strathdee, C. A., Gavish, H., Shannon, W. R. & Buchwald, M. (1992). Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356, 763-7.
    • (1992) Nature , vol.356 , pp. 763-767
    • Strathdee, C.A.1    Gavish, H.2    Shannon, W.R.3    Buchwald, M.4
  • 8
    • 0028049612 scopus 로고
    • A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group a loci on chromosome 9q
    • Morris, D. J. & Reis, A. (1994). A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q. Genomics 23, 23-9.
    • (1994) Genomics , vol.23 , pp. 23-29
    • Morris, D.J.1    Reis, A.2
  • 9
    • 0028840709 scopus 로고
    • Localization of the Fanconi anemia complementation group A gene to chromosome 16q24.3 by linkage analysis and allelic association
    • Pronk, J. C., Gibson, R. A., Savoia, A. et al. (1995). Localization of the Fanconi anemia complementation group A gene to chromosome 16q24.3 by linkage analysis and allelic association. Nature Genetics 11, 338-40.
    • (1995) Nature Genetics , vol.11 , pp. 338-340
    • Pronk, J.C.1    Gibson, R.A.2    Savoia, A.3
  • 10
    • 0028857959 scopus 로고
    • Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p
    • Whitney, M., Thayer, M., Reifsteck, C. et al. (1995). Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nature Genetics 11, 341-3.
    • (1995) Nature Genetics , vol.11 , pp. 341-343
    • Whitney, M.1    Thayer, M.2    Reifsteck, C.3
  • 12
    • 0028036647 scopus 로고
    • Genetic mapping of the FACC gene and linkage analysis in Fanconi anemia families
    • Gibson, R. A., Ford, D., Jansen, S. et al. (1994). Genetic mapping of the FACC gene and linkage analysis in Fanconi anemia families. Journal of Medical Genetics 31, 868-71.
    • (1994) Journal of Medical Genetics , vol.31 , pp. 868-871
    • Gibson, R.A.1    Ford, D.2    Jansen, S.3
  • 14
    • 0023222358 scopus 로고
    • Nevoid basal-cell carcinoma syndrome
    • Gorlin, R. J. (1987). Nevoid basal-cell carcinoma syndrome. Medicine 66, 98-113.
    • (1987) Medicine , vol.66 , pp. 98-113
    • Gorlin, R.J.1
  • 16
    • 0027479494 scopus 로고
    • Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry
    • Goudie, D. R., Yuille, M. A. R., Leversha, M. A. et al. (1993). Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry. Nature Genetics 3, 165-9.
    • (1993) Nature Genetics , vol.3 , pp. 165-169
    • Goudie, D.R.1    Yuille, M.A.R.2    Leversha, M.A.3
  • 17
    • 0027968936 scopus 로고
    • Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2·6-cM interval and contributes to the fine map of 9q22.3
    • Fardon, P. A., Morris, D. J., Hardy, C. et al. (1994). Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2·6-cM interval and contributes to the fine map of 9q22.3. Genomics 23, 486-9.
    • (1994) Genomics , vol.23 , pp. 486-489
    • Fardon, P.A.1    Morris, D.J.2    Hardy, C.3
  • 18
    • 0028801755 scopus 로고
    • Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas
    • Shanley, S. M., Dawkins, H., Wainwright, B. J. et al. (1995). Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas. Human Molecular Genetics 4, 129-33.
    • (1995) Human Molecular Genetics , vol.4 , pp. 129-133
    • Shanley, S.M.1    Dawkins, H.2    Wainwright, B.J.3
  • 19
    • 0026528056 scopus 로고
    • Screening for mutations by RNA single strand conformation polymorphism (rSSCP): Comparison with DNA-SSCR
    • Sarkar, G., Yoon, H.-S. & Sommer, S. (1992). Screening for mutations by RNA single strand conformation polymorphism (rSSCP): comparison with DNA-SSCR Nucleic Acid Research 20, 871-8.
    • (1992) Nucleic Acid Research , vol.20 , pp. 871-878
    • Sarkar, G.1    Yoon, H.-S.2    Sommer, S.3
  • 20
    • 0027407408 scopus 로고
    • Characterization of the exon structure of the Fanconi anaemia group C gene by vectorette PCR
    • Gibson, R. A., Buchwald, M., Roberts, R. G. & Mathew, C. G. (1993). Characterization of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Human Molecular Genetics 2, 35-8.
    • (1993) Human Molecular Genetics , vol.2 , pp. 35-38
    • Gibson, R.A.1    Buchwald, M.2    Roberts, R.G.3    Mathew, C.G.4
  • 21
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita, M., Susuki, Y., Sekiya, T. & Hayashi, K. (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 1066-72.
    • (1989) Genomics , vol.5 , pp. 1066-1072
    • Orita, M.1    Susuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 22
    • 0026816352 scopus 로고
    • Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: Application to the study of some common cystic fibrosis mutations
    • Gasparini, R, Bonizzato, A., Dignini, M. & Pignatti, P. P. (1992). Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. Molecular and Cellular Probes 6, 1-7.
    • (1992) Molecular and Cellular Probes , vol.6 , pp. 1-7
    • Gasparini, R.1    Bonizzato, A.2    Dignini, M.3    Pignatti, P.P.4
  • 25
    • 0025049308 scopus 로고
    • DNA sequence polymorphisms in Alu repeats
    • Orita, M., Sekiya, T. & Hayashi, K. (1990). DNA sequence polymorphisms in Alu repeats. Genomics 8, 271-8.
    • (1990) Genomics , vol.8 , pp. 271-278
    • Orita, M.1    Sekiya, T.2    Hayashi, K.3
  • 26
    • 0029947378 scopus 로고    scopus 로고
    • Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters
    • in press
    • Savoia, A., Zatterale, A., Del Principe, D. & Joenje, H. (1996). Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters. Human Genetics, in press.
    • (1996) Human Genetics
    • Savoia, A.1    Zatterale, A.2    Del Principe, D.3    Joenje, H.4
  • 27
    • 0028141430 scopus 로고
    • Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations
    • Bisceglia, L., Grifa, A., Zelante, L. & Gasparini, P. (1994). Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations. Human Mutation 4, 136-40.
    • (1994) Human Mutation , vol.4 , pp. 136-140
    • Bisceglia, L.1    Grifa, A.2    Zelante, L.3    Gasparini, P.4
  • 28
    • 0030050851 scopus 로고    scopus 로고
    • Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria(PNH) patients
    • Savoia, A., Ianzano, L., Lunardi, C. et al. (1996). Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria(PNH) patients. Human Genetics, 97, 45-8.
    • (1996) Human Genetics , vol.97 , pp. 45-48
    • Savoia, A.1    Ianzano, L.2    Lunardi, C.3
  • 29
    • 0025064717 scopus 로고
    • Gene complementing xeroderma pigmentousgroup A cells maps to distal human chromosome 9q
    • Henning, K. A., Schultz, R. A., Sekhon, G. S. & Friedberg, E. C. (1990). Gene complementing xeroderma pigmentousgroup A cells maps to distal human chromosome 9q. Somatic Cell Molecular Genetics 16, 395-400.
    • (1990) Somatic Cell Molecular Genetics , vol.16 , pp. 395-400
    • Henning, K.A.1    Schultz, R.A.2    Sekhon, G.S.3    Friedberg, E.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.