Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing

Genomics

Volumn 34, Issue 1, 1996, Pages 107-113

  Tully, Gillian ^a   Sullivan, Kevin M ^a   Nixon, Paula ^a   Stones, Rebecca E ^a   Gill, Peter ^a  

^a FORENSIC SCIENCE SERVICE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; DNA POLYMORPHISM; FLUORESCENCE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; HUMAN; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0030059841     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0247     Document Type: Article

References (36)

1. Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., and Young, I. G. (1981). Sequence and organization of the human mitochondrial genome. Nature 290: 457-465.
2. Aquadro, C. F., and Greenberg, B. D. (1983). Human mitochondrial DNA variation and evolution: Analysis of nucleotide sequences from seven individuals. Genetics 103: 287-312.
3. Bodenteich, A., Mitchell, L. G., Polymeropoulos, M. H., and Merril, C. R. (1992). Dinucleotide repeat in the human mitochondrial D-loop. Hum. Mol. Genet. 1(2): 140.
4. Brunetto, M. R., Randone, A., Ranki, M., Jalanko, A., Piantino, P., Giarin, M., Capra, G., Calvo, P. L., Oliveri, F., and Bonino, F. (1994). Quantitative analysis of wild-type and HBeAg minus hepatitis B viruses by a sequence-dependent primer extension assay. J. Med. Virol. 43: 310-315.
5. Cann, R. L., Stoneking, M., and Wilson, A. C. (1987). Mitochondrial DNA and human evolution. Nature 325: 31-36.
6. Dianzani, I., Camaschella, C., Ponzone, A., and Cotton, R. G. H. (1993). Dilemmas and progress in mutation detection. Trends Genet. 9(12): 403-406.
7. Di Rienzo, A., and Wilson, A. C. (1991). Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc. Natl. Acad. Sci. USA 88: 1597-1601.
8. Greenberg, B. D., Newbold, J. E., and Sugino, A. (1983). Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene 21: 33-49.
9. 1-antitrypsin Z mutation. Clin. Chem. 39(11): 2282-2287.
10. Hopgood, R., Sullivan, K. M., and Gill, P. (1992). Strategies for automated sequencing of human mitochondrial DNA directly from PCR products. BioTechniques 13(1): 82-92.
11. Horai, S., and Hayasaka, K. (1990). Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am. J. Hum. Genet. 46: 828-842.
12. Ihalainen, J., Siitari, H., Laine, S., Syvänen, A-C., and Palotie, A. (1994). Towards automatic detection of point mutations: Use of scintillating microplates in solid-phase minisequencing. BioTechniques 16(5): 938-943.
13. Jalanko, A., Kere, J., Savilahti, E., Schwartz, M., Syvänen, A. C., Ranki, M., and Soderlund, H. (1992). Screening for denned cystic fibrosis mutations by solid-phase minisequencing. Clin. Chem. 38: 39-43.
14. Juvonen, V., Huoponen, K., Syvänen, A-C., Nikoskelainen, E., and Savontaus, M-L. (1994). Quantification of point mutations associated with Leber Hereditary optic neuroretinopathy by solid-phase minisequencing. Hum. Genet. 93: 16-20.
15. 1eu(DDR) mutation associated with maternally inherited myopathy and cardiomyopathy. J. Clin. Invest. 93: 1102-1107.
16. Merriwether, A., Clark, A. G., Ballinger, S. W., Schurr, T. G., Soodyall, H., Jenkins, T., Sherry, S. T., and Wallace, D. C. (1991). The structure of human mitochondrial DNA variation. J. Mol. Evol. 33: 543-555.
17. Nyrén, P., Pettersson, B., and Uhlén, M. (1993). Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphate detection assay. Anal. Biochem. 208: 171-175.
18. Orrego, C., and King, M-C. (1990). Determination of familial relationships. In "PCR Protocols. A Guide to Methods and Applications" (M. A. Innis, D. H. Gelfand, J. J. Sninsky, and T. J. White, Eds.), pp. 416-426, Academic Press, San Diego.
19. 654 → A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. Genomics 13: 237-239.
20. Piercy, R., Sullivan, K. M., Benson, N., and Gill, P. (1993). The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int. J. Leg. Med. 106: 85-90.
21. Reynolds, R., Clark, E., Marschak, T., Varlaro, J., and Rubin, S. (1996). Mitochondrial DNA typing using sequence-specific oligonucleotide probes. 16th Int. Congress Int. Soc. Forensic Haemogenet., in press.
22. Saiki, R. K., Walsh, P. S., Levenson, C. H., and Erlich, H. A. (1989). Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc. Natl. Acad. Sci. USA 86: 6230-6234.
23. Soodyall, H., and Jenkins, T. (1993). Mitochondrial DNA polymorphisms in Negroid populations from Namibia: New light on the origins of the Dama, Herero and Ambo. Ann. Hum. Biol. 20: 477-485.
24. Stoneking, M., Hedgecock, D., Higuchi, R. G., Vigilant, L., and Erlich, H. A. (1991). Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. Am. J. Hum. Genet. 48: 370-382.
25. Sullivan, K. M., Hopgood, R., Lang, B., and Gill, P. (1991). Automated amplification and sequencing of human mitochondrial DNA. Electrophoresis 12: 17-21.
26. 3243 point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription. Hum. Mol. Genet. 2(5): 525-534.
27. Suomalainen, A., Kollmann, P., Octave, J-N., Soderlund, H., and Syvänen, A-C. (1993b). Quantification of mitochondrial DNA carrying the tRNA8344Lys point mutation in myoclonus epilepsy and ragged-red-fiber disease. Eur. J. Hum. Genet. 1: 88-95.
28. Syvänen, A-C., Aalto-Setala, K., Harju, L., Kontula, K., and Soderlund, H. (1990). A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 8: 684-692.
29. Syvänen, A-C., Ikonen, E., Manninen, T., Bengtstrom, M., Soderlund, S., Aula, P., and Peltonen, L. (1992a). Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland. Genomics 12: 590-595.
30. Syvänen, A-C., Soderlund, H., Laaksonen, E., Bengtstrom, M., and Turunen, M. (1992b). N-ras gene mutations in acute myeloid leukemia: Accurate detection by solid-phase minisequencing. Int. J. Cancer 50: 713-718.
31. Syvänen, A-C., Sajantila, A., and Lukka, M. (1993). Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing. Am. J. Hum. Genet. 52: 46-59.
32. Tajima, F. (1989). Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123: 585-595.
33. Torroni, A., Lott, M. T., Cabell, M. F., Chen, Y-S., Lavergne, L., and Wallace, D. C. (1994). MtDNA and the origin of Caucasians: Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am. J. Hum. Genet. 55: 760-776.
34. Upholt, W. B., and Dawid, I. B. (1977). Mapping of mitochondrial DNA of individual sheep and goats: Rapid evolution in the D loop region. Cell 11: 571-583.
35. Walberg, M. W., and Clayton, D. A. (1981). Sequence and properties of the human KB cell and mouse L cell D-loop regions of mitochondrial DNA. Nucleic Acids Res. 9(20): 5411-5421.
36. Whittam, T. S., Clark, A. G., Stoneking, M., Cann, R. L., and Wilson, A. C. (1986). Allelic variation in human mitochondrial genes based on patterns of restriction site polymorphism. Proc. Natl. Acad. Sci. USA 83: 9611-9615.