1. Nollau, P.; Wagener, C. Methods for detection of point mutations: Performance and quality assessment. Clin. 17. Chem. 1997, 43, 1114-1128.

2. Myers, R.M.; Maniatis, T.; Lerman, L.S. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol. 1987, 155, 501527.

3. Wartell, R.M.; Hosseini, S.; Powell, S.; Zhu, J. Detecting 18. single base substitutions, mismatches and bulges in DNA by temperature gradient gel electrophoresis and related methods. J. Chromatogr., A 1998, 806, 169-185.

4. Orita, M.; Iwahana, H.; Kanazawa, H.; Hayashi, K.; Sekiya, T. Detection of polymorphisms of human DNA by gel 19. electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. U. S. A. 1989, 86, 27662770.

5. Tassabehji, M.; Read, A.P.; Newton, V.E.; Patton, M.; 20. Gruss, P.; Harris, R.; Strachan, T. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat. Genet. 1993, 3, 26-30.

6. Soto, D.; Sukumar, S. Improved detection of mutations 21. in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded D.N.A. heteroduplex. PCR Methods Appl. 1992, 2, 96-98.

7. Saleeba, J.A.; Ramus, S.J.; Cotton, R.G. Complete mutation detection using unlabeled chemical cleavage. 22. Hum. Mutat. 1992, 1, 63-69.

8. Mashal, R.D.; Koontz, J.; Sklar, J. Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage 23. resolvases. Nat. Genet. 1995, 9, 177-183.

9. Youil, R.; Kemper, B.W.; Cotton, R.G. Screening for mutations by enzyme mismatch cleavage with T4 V.I.I. 24 endonuclease. Proc. Natl. Acad. Sci. U. S. A. 1995, 92, 87-91.

10. Roest, P.A.; Roberts, R.G.; Sugino, S.; van Ommen, G.J.; den Dunnen, J.T. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum. Mol.

11. Ellis, L.A.; Taylor, G.R.; Banks, R.; Baumberg, S. MutS binding protects heteroduplex DNA from exonuclease digestion in vitro: A simple method for detecting mutations. Nucleic Acids Res. 1994, 22, 2710-2711. 26.

12. Lyamichev, V.; Brow, M.A.; Dahlberg, J.E. Structure-specific endonucleolytic cleavage of nucleic acids by eubacterial DNA polymerases. Science 1993, 260, 778 - 27. 783.

13. Yoshino, K.; Nishigaki, K.; Husimi, Y. Temperature sweep mismatch binding protein S mutation analysis protein truncation test single-strand conformation polymorphism temperature gradient gel electrophoresis temporal temperature gradient gel electrophoresis gel electrophoresis: A simple method to detect point mutations. Nucleic Acids Res. 1991, 19, 3153. Wartell, R.M.; Hosseini, S.H.; Moran, C.P., Jr. Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis. Nucleic Acids Res. 1990, 18, 2699-2705.

Wong, L.-J.C.; Liang, M.-H.; Kwon, H.; Bai, R.K.; Alper, O.; Gropman, A. A CF patient with two novel mutations in mitochondrial DNA: Mild disease led to delayed diagnosis of both disorders. Am. J. Med. Genet. 2002, 113, 59-64. Wong, L.-J.C.; Senadheera, D. Direct detection of multiple point mutations in D.N.A. mitochondrial. Clin. Chem. 1997, 43, 1857-1861.

Macek, M., Jr.; Mackova, A.; Hamosh, A.; Hilman, B.C.; Selden, R.F.; Lucotte, G.; Friedman, K.J.; Knowles, M.R.; Rosenstein, B.J.; Cutting, G.R. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am. J. Hum. Genet. 1997, 60, 1122-1127.

Riordan, J.R.; Rommens, J.M.; Kerem, B.; Alon, N.; Rozmahel, R.; Grzelczak, Z.; Zielenski, J.; Lok, S.; Plavsic, N.; Chou, J.L.; et al. Identification of the cystic fibrosis gene: Cloning and characterization of D.N.A. complementary. Science 1989, 245, 1066-1073. Heim, R.A.; Sugarman, E.A.; Allitto, B.A. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet. Med. 2001, 3, 168-176. Wong, L.J.; Wang, J.; Zhang, Y.H.; Hsu, E.; Heim, R.A.; Bowman, C.M.; Woo, M.S. Improved detection of CFTR mutations in Southern California Hispanic CF patients. Hum. Mutat. 2001, 18, 296-307.

Lin, T.; Wilkin, D.J.; Chen, T.; Francomano, C.A.; Wong, L.-J.C. Identification of mutations and polymorphisms in the COL2A1 gene by temporal temperature gradient gel electrophoresis. Am. J. Hum. Genet. 1998, 63, A317. #2150.

Liang, M.H.; Wong, L.-J.C. Yield of mtDNA mutation analysis in 2000 patients. Am. J. Med. Genet. 1998, 77, 385-400.

Guttman, A.; Gao, H.G.; Haas, R. Rapid analysis of mito-chondrial DNA heteroplasmy in diabetes by gel-microchip electrophoresis. Clin. Chem. 2001, 47, 1469-1472. Sternberg, D.; Danan, C.; Lombes, A.; Laforet, P.; Girodon, E.; Goossens, M.; Amselem, S. Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. Hum. Mol. Genet. 1998, 7, 33-42. Michikawa, Y.; Hofhaus, G.; Lerman, L.S.; Attardi, G. Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes. Nucleic Acids Res. 1997, 25, 2455-2463.

Wong, L.-J.C.; Liang, M.-H.; Kwon, H.; Park, J.; Bai, R.; Tan, D. Comprehensive scanning of the whole mitochondrial genome for mutations. Clin. Chem. 2002, 48, 1901-1912. Chen, T.J.; Boles, R.; Wong, L.-J.C. Detection of mito-chondrial DNA mutations by temporal temperature gradient gel electrophoresis. Clin. Chem. 1999, 45, 1162-1167.

Was this article helpful?

0 0
Delicious Diabetic Recipes

Delicious Diabetic Recipes

This brilliant guide will teach you how to cook all those delicious recipes for people who have diabetes.

Get My Free Ebook

Post a comment