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John M. S. Bartlett.pdf - Bio-Nica.info

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292 Edwards and <strong>Bartlett</strong><br />

Stepwise mutation models and microsatellite polymorphisms have been used to<br />

determine relationships among primates (19). Such studies have investigated the<br />

relationship between humans, chimpanzees, and gorillas (19). There is also an ongoing<br />

debate about proper interpretation of DNA sequence polymorphisms and their ability<br />

to reconstruct human population history (20).<br />

Mutational analysis is also used in genotyping. It was use of mutational analysis<br />

that demonstrated that birds are not monogamous because genotyping performed on<br />

eggs in the same nest demonstrated different parentage (21). Genotyping is also used<br />

when breeding animals in captivity to determine their most appropriate mate (21).<br />

In summary, polymorphism and mutational analysis is a major tool in science today,<br />

without which much of our current understanding of genetics would not have been<br />

possible.<br />

References<br />

1. Alberts, B., Bray, D., Lewis, J., Raff, M., Roberts, K., and Watson, J. D. (1989) Recombinant<br />

DNA Technology, in Molecular <strong>Bio</strong>logy of The Cell, 2nd ed., chapter 4, (Robertson, M., ed.),<br />

Garland Publications, New York, pp. 180–196.<br />

2. Iwahana, H., Yoshimoto, K., and Itakura, J. (1994) Multiple fluorescence-based PCR-SSCP<br />

analysis. <strong>Bio</strong>techniques 16, 296–304.<br />

3. Nataraj, A. J., Olivos-Glander, I., Kusukawa, N., and Highsmith, W. E. (1999) Single-strand<br />

conformation polymorphism and heteroduplex analysis for gel-based mutation detection.<br />

Electrophoresis 20, 1177–1185.<br />

4. Youil, R., Kemper, B. W., and Cotton, R. G. (1995) Screening for mutations by enzyme<br />

mismatch cleavage with T4 endonuclease VII. Proc. Natl. Acad. Sci. USA 92, 87–92.<br />

5. Del Tito, B. J., Poff, H. E., Noviotny, M. A., Cartlidge, D. M., Walker, R. I., Earl, C. D.,<br />

et al. (1998) Automated fluorescent analysis procedure for enzymatic mutation detection.<br />

Clin. Chem. 44, 731–739.<br />

6. Cotton, R. G. (1999) Mutation detection by chemical cleavage. Genet. Anal. 14, 165–168.<br />

7. Gray, I. C., Campbell, D. A., and Spurr, N. K. (2000) Single nucleotide polymorphisms as<br />

tools in human genetics. Hum. Mol. Genet. 9, 2403–2408.<br />

8. Kikoris, M., Dix, K., Moynihan, K., Mathis, J., Erwin, B., Grass, P., et al. (2000) High<br />

throughput SNP genotyping with the mass code system. Mol. Diagn. 5, 329–340.<br />

9. Faham, M., Baharloo, S., Tomitaka, S., DeYoung, J., and Freimer, N. B. (2001) Mismatch<br />

repair detection: high-throughput scanning for DNA variations. Hum. Mol. Genet. 10,<br />

1657–1664.<br />

10. Fan, J. B., Chen, X., Halushka, M. K. Berno, A., Huang, X., Ryder, T., et al. (2000) Parallel<br />

genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome<br />

Res. 10, 853–860.<br />

11. Rohrbach, H., Hass, C .J., Baretton, G. B., Hirschmann, A., Diebold, J., Behrendt,<br />

R. P., et al. (1999) Microsatellite instability and loss of heterozygosity in prostatic<br />

carcinomas: comparison of primary tumours, and of corresponding recurrences after<br />

androgen-deprivation therapy and lymph node metastases. Prostate 40, 20–27.<br />

12. Niederacher, D., Picard, F., van Roeyen, C., An, A. X., Bender, H. G., and Beckmann,<br />

M. W. (1997) Patterns of Allelic loss on chromosome 17 in sporadic breast carcinomas<br />

detected by fluorescent labelled microsatellite analysis. Genes Chromosomes Cancer 18,<br />

181–192.<br />

13. Dietmaier, W., Riedlinger, W., Kohler, A., Wegele, P., Beyser K., Sagner, G., et al. (1999)<br />

Detection of microsatellite instability and loss of heterozygosity in colorectal tumours by<br />

fluorescence based multiplex microsatellite PCR. <strong>Bio</strong>chemica 2, 43– 46.

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