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DNA Diagnosis in Monogenic Diseases

Published online by Cambridge University Press:  10 March 2009

Raye Lynn Alford ,
Belinda J. F. Rossiter  and
C. Thomas Caskey
Raye Lynn Alford
Affiliation:
Baylor College of Medicine
Belinda J. F. Rossiter
Affiliation:
Baylor College of Medicine
C. Thomas Caskey
Affiliation:
Baylor College of Medicine
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Abstract

Several routine procedures are available for diagnosis of diseases caused by an alteration in a single gene. These techniques include Southern analysis, the polymerase chain reaction, allele-specific oligonucleotide screening, automated DNA nucleotide sequencing, and linkage analysis. DNA testing procedures can be used for diagnosis of disease, determination of carrier status in affected families, or general screening of the population. Some of the more commonly used techniques and their applications are described in this article.

Type
Special Section: Genetic Technology
Information
International Journal of Technology Assessment in Health Care , Volume 10 , Issue 4 , Fall 1994 , pp. 628 - 643
Copyright
Copyright © Cambridge University Press 1994

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References

REFERENCES

1.Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. Journal of the American Medical Association, 1992, 267, 2609–15.CrossRefGoogle Scholar
2.American Society of Human Genetics Statement on cystic fibrosis carrier screening. American Journal of Human Genetics, 1992, 51, 1443–44.Google Scholar
3.Barany, F.Genetic disease detection and DNA amplification using cloned thermostable ligase. Proceedings of the National Academy of Sciences of the United States of America, 1991, 88, 189–93.CrossRefGoogle ScholarPubMed
4.Beggs, A. H., Koenig, M., Boyce, F. M., & Kunkel, L. M.Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Human Genetics, 1990, 86, 45–48.CrossRefGoogle ScholarPubMed
5.Bennett, W. M.Diagnostic considerations in autosomal dominant polycystic kidney disease. Seminars in Nephrology, 1990, 10, 552–55.Google ScholarPubMed
6.Blitzer, M. G., & McDowell, G. A.Tay-Sachs disease as a model for screening inborn errors. Clinics in Laboratory Medicine, 1992, 12, 463–80.CrossRefGoogle Scholar
7.Bloch, M., Fahy, M., Fox, S., & Hayden, M. R.Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. American Journal of Medical Genetics, 1989, 32, 217–24.CrossRefGoogle ScholarPubMed
8.Brandt, J., Quaid, K. A., Folstein, S.E. et al. , Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington’s disease. Journal of the American Medical Association, 1989, 261, 3108–14.CrossRefGoogle ScholarPubMed
9.Cantor, C. R., Mirzabekov, A., & Southern, E.Report on the sequencing by hybridization workshop. Genomics, 1992, 13, 1378–83.CrossRefGoogle ScholarPubMed
10.Cao, A., Rosatelli, M. C., & Galanello, R.Population-based genetic screening. Current Opinion in Genetics and Development, 1991, 1, 48–53.CrossRefGoogle ScholarPubMed
11.Caskey, C. T., Pizzuti, A., Fu, Y. H. et al. , Triplet repeat mutations in human disease. Science, 1992, 256, 784–89.CrossRefGoogle ScholarPubMed
12.Caskey, C. T., & Rossiter, B. J. F.9th Ernst Klenk Lecture. Molecular medicine. Biological Chemistry Hoppe-Seyler, 1992, 373, 159–70.Google ScholarPubMed
13.Caskey, C. T., & Rossiter, B. J. F. Molecular genetics. In Evans, M. I. (ed.), Reproductive risks and prenatal diagnosis. Norwalk, CT: Appleton & Lange, 1992, 265–74.Google Scholar
14.Conner, B. J., Reyes, A. A., Morin, C. et al. , Detection of sickle cell βs-globin allele by hybridization with synthetic oligonucleotides. Proceedings of the National Academy of Sciences of the United States of America, 1983, 80, 278–82.CrossRefGoogle Scholar
15.Cotton, R. G. H., Rodrigues, N. R., & Campbell, R. D.Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proceedings of the National Academy of Sciences of the United States of America, 1988, 85, 4397–401.CrossRefGoogle Scholar
16.Edwards, A., & Caskey, C. T.Genetic marker technology. Current Opinion in Biotechnology, 1991, 2, 818–22.CrossRefGoogle ScholarPubMed
17.Fox, S., Bloch, M., Fahy, M., & Hayden, M. R.Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia. American Journal of Medical Genetics, 1989, 32, 211–16.CrossRefGoogle ScholarPubMed
18.Fu, Y. H., Kuhl, D. P. A., Pizzuti, A. et al. , Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell, 1991, 67, 1047–58.CrossRefGoogle ScholarPubMed
19.Gaston, M. H., Verter, J. I., Woods, G. et al. , Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. New England Journal of Medicine, 1986, 314, 1593–99.CrossRefGoogle ScholarPubMed
20.Geever, R. F., Wilson, L. B., Nallaseth, F. S. et al. , Direct identification of sickle cell anemia by blot hybridization. Proceedings of the National Academy of Sciences of the United States of America, 1981, 78, 5081–85.CrossRefGoogle ScholarPubMed
21.Gibbs, R. A., Nguyen, P. N., Edwards, A. et al. , Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics, 1990, 7, 235–44.CrossRefGoogle ScholarPubMed
22.Guthrie, R.Blood screening for phenylketonuria. Journal of the American Medical Association, 1961, 178, 863.CrossRefGoogle Scholar
23.Hu, X., Ray, P. N., Murphy, E. G. et al. , Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotype/genotype correlation. American Journal of Human Genetics, 1990, 46, 682–95.Google Scholar
24.Kerem, B. S., Rommens, J. M., Buchanan, J. A. et al. , Identification of the cystic fibrosis gene: Genetic analysis. Science, 1989, 245, 1073–80.CrossRefGoogle ScholarPubMed
25.Koenig, M., Hoffman, E. P., Bertelson, C. J. et al. , Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell, 1987, 50, 509–17.CrossRefGoogle ScholarPubMed
26.Lemna, W. K., Feldman, G. L., Kerem, B. S. et al. , Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. New England Journal of Medicine, 1990, 322, 291–96.CrossRefGoogle ScholarPubMed
27.Mullis, K. B., & Faloona, F. A.Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods in Enyzmology, 1987, 155, 335–50.CrossRefGoogle Scholar
28.Myers, R. M., Fischer, S. G., Lerman, L. S., & Maniatis, T.Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Research, 1985, 13, 3131–45.CrossRefGoogle ScholarPubMed
29.Myers, R. M., Fischer, S. G., Maniatis, T., & Lerman, L. S.Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis. Nucleic Acids Research, 1985, 13, 3111–29.CrossRefGoogle ScholarPubMed
30.Myers, R. M., Larin, Z., & Maniatis, T.Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science, 1985, 230, 1242–46.CrossRefGoogle ScholarPubMed
31.O'Flynn, M. E.Newborn screening for phenylketonuria: Thirty years of progress. Current Problems in Pediatrics, 1992, 22, 159–65.CrossRefGoogle ScholarPubMed
32.Orita, M., Suzuki, Y., Sekiya, T., & Hayashi, K.Rapid and sensitive detection of point mutations and DNA polymorphisms using the polyermase chain reaction. Genomics, 1989, 5, 874–79.CrossRefGoogle Scholar
33.Quaid, K. A., Brandt, J., Faden, R. R., & Folstein, S. E.Knowledge, attitude, and the decision to be tested for Huntington's disease. Clinical Genetics, 1989, 36, 431–38.Google ScholarPubMed
34.Reilly, P.Genetics, law, and social policy. Cambridge, MA: Harvard University Press, 1977, 65–86.CrossRefGoogle Scholar
35.Righetti, P. G., Chiari, M., Casale, E. et al. , HydroLink™ gel electrophoresis (HLGE): I. Matrix characterization. Journal of Biochemical and Biophysical Methods, 1989, 19, 37–49.CrossRefGoogle ScholarPubMed
36.Riordan, J. R., Rommens, J. M., Kerem, B. S. et al. , Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science, 1989, 245,1066–73.CrossRefGoogle ScholarPubMed
37.Rommens, J. M., Iannuzzi, M. C., Kerem, B. S. et al. , Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science, 1989, 245, 1059–65.CrossRefGoogle ScholarPubMed
38.Rossiter, B. J. F., & Caskey, C. T. Molecular biology of human genetic predisposition to disease. In Meyers, R. A. (ed.), Encyclopedia of molecular biology and biotechnology. Weinheim: VCH Publishers, in press.Google Scholar
39.Saiki, R. K., Bugawan, T. L., Horn, G. T. et al. , Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes. Nature, 1986, 324, 163–66.CrossRefGoogle Scholar
40.Saiki, R. K., Scharf, S., Faloona, F. et al. , Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science, 1985, 230, 1350–54.CrossRefGoogle ScholarPubMed
41.Saiki, R. K., Walsh, P. S., Levenson, C. H., & Erlich, H. A.Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proceedings of the National Academy of Sciences of the United States of America, 1989, 86, 6230–34.CrossRefGoogle ScholarPubMed
42.Smith, C. L., Ewing, C. M., Mellon, M. T., et al. HydroLink™ gel electrophoresis (HLGE): II. Applications of a new polymer matrix to dsDNA analysis. Journal of Biochemical and Biophysical Methods, 1989, 19, 51–64.CrossRefGoogle ScholarPubMed
43.Smith, C. L., Ewing, C. M., Mellon, M. T. et al. , HydroLink™ gel electrophoresis (HLGE): III. High DNA loading capacity and recovery of dsDNA. Journal of Biochemical and Biophysical Methods, 1989, 19, 65–73. Erratum in Journal of Biochemical and Biophysical Methods, 1990, 20, 271.CrossRefGoogle ScholarPubMed
44.Southern, E. M.Detection of specific sequences among DNA fragments separated by gel electrophoresis. Journal of Molecular Biology, 1975, 98, 503–17.CrossRefGoogle ScholarPubMed
45.Tsui, L. C.The spectrum of cystic fibrosis mutations. Trends in Genetics, 1992, 8, 392–98.CrossRefGoogle ScholarPubMed
46.Williamson, R.Universal community carrier screening for cystic fibrosis? Nature Genetics 1993, 3, 195–201.Google Scholar
47.Zhang, Y. H., McCabe, L. L., Wilborn, M. et al. , DNA and RNA analysis from dried blood specimens for rapid confirmation in a neonatal hemoglobinopathy screening program. American Journal of Human Genetics, 1992, 51 (suppl. 4), A272.Google Scholar