The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.
Open accessAbstract
Two 19-base-long oligonucleotides were synthesized, one complementary to the normal human beta-globin gene (beta A) and one complementary to the sickle cell beta-globin gene (beta S). The nonadecanucleotides were radioactively labeled and used as probes in DNA hybridization. Under appropriate hybridization conditions, these probes can be used to distinguish the beta A gene from the beta S allele. The DNA from individuals homozygous for the normal beta-globin gene (beta A beta A) only hybridized with the beta A specific probe; the DNA from those homozygous for the sickle cell beta-globin gene (beta S beta S) only hybridized with the beta S specific probe. The DNA from heterozygous individuals (beta A beta S) hybridized with both probes. This allele-specific hybridization behavior of oligonucleotides provides a general method for diagnosis of any genetic disease which involves a point mutation in the DNA sequence of a single-copy gene.
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Citations
Cites
Sickle Cell Anemia, a Molecular Disease
Pauling, L., Itano, H. A., Singer, S. J., & Wells, I. C. (1949) · Science · doi:10.1126/science.110.2865.543 · Cited by 2,319
Cited by
Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., & Arnheim, N. (1985) · Science · doi:10.1126/science.2999980 · Cited by 8,956
Orita, M., Suzuki, Y., Sekiya, T., & Hayashi, K. (1989) · Genomics · doi:10.1016/0888-7543(89)90129-8 · Cited by 3,434
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
Congenital adrenal hyperplasia
Speiser, P. W., & White, P. C. (2003) · New England Journal of Medicine · doi:10.1056/nejmra021561 · Cited by 1,405
Accessing genetic variation: genotyping single nucleotide polymorphisms
Syvänen, A.-C. (2001) · Nature Reviews Genetics · doi:10.1038/35103535 · Cited by 1,083
Metadata
- Authors
- Conner, B. J., Reyes, A. A., Morin, C., Itakura, K., Teplitz, R. L., & Wallace, R. B.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1983-01
- Volume
- 80
- Issue
- 1
- Pages
- 278-282
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1978208924
- Cited by
- 531
- References
- 1
- FWCI
- 41.73
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Conner, B. J., Reyes, A. A., Morin, C., Itakura, K., Teplitz, R. L., & Wallace, R. B. (1983). Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.80.1.278
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