Search tips
Search criteria 


Logo of jbtJBT IndexAssociation Homepage
J Biomol Tech. 1999 December; 10(4): 177–186.
PMCID: PMC2291606

Considerations in adding mutation detection services to a sequencing core facility

Full Text

The Full Text of this article is available as a PDF (137K).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Hayashi K. PCR-SSCP: a method for detection of mutations. Genet Anal Tech Appl. 1992 Jun;9(3):73–79. [PubMed]
  • Underhill PA, Jin L, Lin AA, Mehdi SQ, Jenkins T, Vollrath D, Davis RW, Cavalli-Sforza LL, Oefner PJ. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 1997 Oct;7(10):996–1005. [PubMed]
  • Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res. 1998 Mar 15;26(6):1396–1400. [PMC free article] [PubMed]
  • O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer SS, McGuffin P. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics. 1998 Aug 15;52(1):44–49. [PubMed]
  • Huber CG, Oefner PJ, Bonn GK. High-resolution liquid chromatography of oligonucleotides on nonporous alkylated styrene-divinylbenzene copolymers. Anal Biochem. 1993 Aug 1;212(2):351–358. [PubMed]
  • Marino MA, Devaney JM, Smith JK, Girard JE. Sequencing using capillary electrophoresis of short tandem repeat alleles separated and purified by high performance liquid chromatography. Electrophoresis. 1998 Jan;19(1):108–118. [PubMed]
  • Hayward-Lester A, Oefner PJ, Doris PA. Rapid quantification of gene expression by competitive RT-PCR and ion-pair reversed-phase HPLC. Biotechniques. 1996 Feb;20(2):250–257. [PubMed]
  • Huber CG, Oefner PJ, Preuss E, Bonn GK. High-resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles. Nucleic Acids Res. 1993 Mar 11;21(5):1061–1066. [PMC free article] [PubMed]
  • Hecker KH, Turpie B, Kuklin A. Optimization of cloning efficacy by pre-cloning DNA fragment analysis. Biotechniques. 1999 Feb;26(2):216–222. [PubMed]
  • Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 1989 Nov;5(4):874–879. [PubMed]
  • Winterpacht A, Hilbert K, Schwarze U, Zabel B. Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation. Hum Genet. 1995 Apr;95(4):437–439. [PubMed]
  • Wenz HM, Baumhueter S, Ramachandra S, Worwood M. A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH). Hum Genet. 1999 Jan;104(1):29–35. [PubMed]
  • Makino R, Yazyu H, Kishimoto Y, Sekiya T, Hayashi K. F-SSCP: fluorescence-based polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis. PCR Methods Appl. 1992 Aug;2(1):10–13. [PubMed]
  • Inazuka M, Wenz HM, Sakabe M, Tahira T, Hayashi K. A streamlined mutation detection system: multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis. Genome Res. 1997 Nov;7(11):1094–1103. [PubMed]
  • Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics. 1993 May;16(2):325–332. [PubMed]
  • Glavac D, Dean M. Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat. 1993;2(5):404–414. [PubMed]
  • Ellison J, Dean M, Goldman D. Efficacy of fluorescence-based PCR-SSCP for detection of point mutations. Biotechniques. 1993 Oct;15(4):684–691. [PubMed]
  • Highsmith WE, Jr, Nataraj AJ, Jin Q, O'Connor JM, El-Nabi SH, Kusukawa N, Garner MM. Use of DNA toolbox for the characterization of mutation scanning methods. II: evaluation of single-strand conformation polymorphism analysis. Electrophoresis. 1999 Jun;20(6):1195–1203. [PubMed]
  • Glavac D, Dean M. Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat. 1993;2(5):404–414. [PubMed]
  • Ozçelik H, Andrulis IL. Multiplex PCR-SSCP for simultaneous screening for mutations in several exons of p53. Biotechniques. 1995 May;18(5):742–744. [PubMed]

Articles from Journal of Biomolecular Techniques : JBT are provided here courtesy of The Association of Biomolecular Resource Facilities