Advanced search
Publication Cover
Upsala Journal of Medical Sciences Volume 107, 2002 - Issue 1
Journal homepage
83
Views
0
CrossRef citations to date
0
Altmetric
Original

Merging classical and modern genetic tools in the identification of disease genes

Peter Gustavsson Unit of Clinical Genetics, Department of Genetics and Pathology, Uppsala University, SWEDEN
Pages 1-8 | Received 20 Mar 2002, Accepted 17 Apr 2002, Published online: 12 Jul 2009

References

  • Antonarakis SE, McKusick VA (2000) OMIM passes the 1,000-disease-gene mark. Nat Genet 25: 11.
  • OMIM Statistics (Jan 17, 2002); http://www.ncbi.nlm.nih.gov/Omim/Stats/mimstats.html
  • Aparicio SA (2000) How to count ... human genes. Nat Genet 25: 129–130.
  • Gustavsson P (2000) Diamond-Blackfan Anemia. Mapping and Identification of the Disease Gene. Acta Universitatis Upsaliensis. Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 974, 48 pp.
  • Thompson MW, McInnes RR, Willard HF (1991) Genetics in medicine, WB Saunders, Philadelphia.
  • Tommerup N (1993) Mendelian cytogenetics. Chromosome rearrangements associated with mendelian dis orders. J Med Genet 30: 713–727.
  • Rudkin GT, Stollar BD (1977) High resolution detection of DNA-RNA hybrids in situ by indirect immuno-fluorescence. Nature 265: 472–473.
  • Trask BJ (1991) Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 7: 149–154.
  • Ott J (1991) Analysis of Human Genetic Linkage. The Johns Hopkins Press, Baltimore.
  • Collins FS (1995) Positional cloning moves from perditional to traditional. Nat Genet 9: 347–350.
  • Lovett M, Kere J, Hinton LM (1991) Direct selection: a method for the isolation of cDNAs encoded by largegenomic regions. Proc Natl Acad Sci USA 88: 9628–9632.
  • Auch D, Reth M (1990) Exon trap cloning: using PCR to rapidly detect and clone exons from genomic DNA fragments. Nucleic Acids Res 18: 6743–6744.
  • Weber IL, Myers EW (1997) Human whole-genome shotgun sequencing. Genome Res 7: 401–409.
  • Staden R (1996) The STADEN sequence analysis package. Molecular Biotechnology 5: 233–241.
  • Ewing B, Green P (1998) Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 8: 186–194.
  • Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25: 3389–3402.
  • Uberbacher EC, Mural RJ (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc Natl Acad Sci USA 88: 11261–11265.
  • Wilson RK, Chen C, Avdalovic N, Bums J, Hood L (1990) Development of an automated procedure for flu orescent DNA sequencing. Genomics 6: 626–634.
  • Bork P, Dandekar T, Diaz-Lazcoz Y, Eisenhaber F, Huynen M, Yuan Y (1998) Predicting function: from genes to genomes and back. J Mol Biol 283: 707–725.
  • Young NS, Alter BP (1994) Aplastic anemia: acquired and inherited, WB Saunders, Philadelphia.
  • Krijanovski OI, Sieff CA (1997) Diamond-Blackfan anemia. Hematol Oncol Chin North Am 11: 1061–1077.
  • Willig TN, Ball SE, Tchemia G (1998) Current concepts and issues in Diamond-Blackfan anemia. Curr Opin Hematol 5: 109–115.
  • Lutsch G, Stahl J, Kargel HJ, Noll F and Bielka H (1990) Immunoelectron microscopic studies on the location of ribosomal proteins on the surface of the 40S ribosomal subunit from rat liver. EurJ Cell Biol 51: 140–150.
  • Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ, Tanaka T, Page DC (1998) A map of 75 human ribosomal protein genes. Genome Res 8: 509–523.
  • Wool IG (1996) Extraribosomal functions of ribosomal proteins, In: (eds Green R and Schroeder R) Ribosomal RNA and Group I Introns, RG Landes and Springer Company, New York, pp 153–178.
  • Fields S (1997) The future is function. Nat Genet 15: 325–327.
  • Chien CT, Bartel PL, Stemglanz R, Fields S (1991) The two-hybrid system: a method to identify and clone genes for proteins that interact with a protein of interest. Proc Natl Acad Sci USA 88: 9578–9582.
  • Uetz P, Giot L, Cagney G, Mansfield TA, Judson RS, Knight JR, Lockshon D, Narayan V, Srinivasan M, Pochart P, Qureshi-Emili A, Li Y, Godwin B, Conover D, Kalbfleisch T, Vijayadamodar G, Yang M, Johnston M, Fields S, Rothberg JIM (2000) A comprehensive analysis of protein-protein interactions in Saccharomyces cerevisiae. Nature 403: 623–627.
  • Nomura T (1997) Practical development of genetically engineered animals as human disease models. Lab Anim Sci 47: 113–117.
  • The Mouse Genome Database (MGD); http://www.informatics.jax.org/
  • von Kalle C, Glimm H, Schulz G, Mertelsmann R, Henschler R (1998) New developments in hematopoietic stem cell expansion Curr Opin Hematol 5: 79–86.
  • Lutzko C, Dube ID, Stewart AK (1999) Recent progress in gene transfer into hematopoietic stem cells. Crit Rev Oncol Hematol 30: 143–158.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.