Detection of point mutations in human genes by the solid-phase minisequencing method - PubMed (original) (raw)
Review
Detection of point mutations in human genes by the solid-phase minisequencing method
A C Syvänen. Clin Chim Acta. 1994 May.
Abstract
The increased understanding of the molecular defects causing human genetic diseases has created a need for diagnostic methods to detect these defects at the DNA level. We have developed a new method, denoted solid-phase minisequencing, for the detection of previously known point mutations. Because of its convenient format, the method is well suited for routine use in the clinical laboratory. We have applied it for diagnosis and identification of carriers of the recessively inherited disease aspartylglucosaminura, for diagnosis of dominantly inherited amyloidosis of the Finnish type and for detecting polymorphic nucleotides of the genome. The solid-phase minisequencing method allows accurate and sensitive quantitation of two sequences which differ from each other by one nucleotide and are present as a mixture in a sample. This feature of the method is an advantage in the diagnosis of mitochondrial disorders caused by heteroplasmic point mutations and for the detection of minimal residual cells carrying somatic point mutations in samples from patients with myeloid malignancies.
Similar articles
- Towards automatic detection of point mutations: use of scintillating microplates in solid-phase minisequencing.
Ihalainen J, Siitari H, Laine S, Syvänen AC, Palotie A. Ihalainen J, et al. Biotechniques. 1994 May;16(5):938-43. Biotechniques. 1994. PMID: 8068351 - Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
Syvänen AC, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L. Syvänen AC, et al. Genomics. 1992 Mar;12(3):590-5. doi: 10.1016/0888-7543(92)90452-x. Genomics. 1992. PMID: 1559710 - From gels to chips: "minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms.
Syvänen AC. Syvänen AC. Hum Mutat. 1999;13(1):1-10. doi: 10.1002/(SICI)1098-1004(1999)13:1<1::AID-HUMU1>3.0.CO;2-I. Hum Mutat. 1999. PMID: 9888384 Review. - A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria.
Sommer SS, Cassady JD, Sobell JL, Bottema CD. Sommer SS, et al. Mayo Clin Proc. 1989 Nov;64(11):1361-72. doi: 10.1016/s0025-6196(12)65378-6. Mayo Clin Proc. 1989. PMID: 2687596 Review.
Cited by
- Use of DNA quantification to measure growth and autolysis of Lactococcus and Propionibacterium spp. in mixed populations.
Treimo J, Vegarud G, Langsrud T, Rudi K. Treimo J, et al. Appl Environ Microbiol. 2006 Sep;72(9):6174-82. doi: 10.1128/AEM.00515-06. Appl Environ Microbiol. 2006. PMID: 16957244 Free PMC article. - Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy.
Hallberg P, Lind L, Michaëlsson K, Kurland L, Kahan T, Malmqvist K, Ohman KP, Nyström F, Liljedahl U, Syvänen AC, Melhus H. Hallberg P, et al. BMC Cardiovasc Disord. 2003 Sep 18;3:11. doi: 10.1186/1471-2261-3-11. Epub 2003 Sep 18. BMC Cardiovasc Disord. 2003. PMID: 13678427 Free PMC article. Clinical Trial. - Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation.
Prince JA, Feuk L, Howell WM, Jobs M, Emahazion T, Blennow K, Brookes AJ. Prince JA, et al. Genome Res. 2001 Jan;11(1):152-62. doi: 10.1101/gr.150201. Genome Res. 2001. PMID: 11156624 Free PMC article. - Fluorescence polarization in homogeneous nucleic acid analysis.
Chen X, Levine L, Kwok PY. Chen X, et al. Genome Res. 1999 May;9(5):492-8. Genome Res. 1999. PMID: 10330129 Free PMC article. - A quantitative assay for assessing allelic proportions by iterative gap ligation.
Stewart J, Kozlowski P, Sowden M, Messing E, Smith HC. Stewart J, et al. Nucleic Acids Res. 1998 Feb 15;26(4):961-6. doi: 10.1093/nar/26.4.961. Nucleic Acids Res. 1998. PMID: 9461454 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources