Abstract
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.
Dates
Type | When |
---|---|
Created | 19 years, 2 months ago (May 31, 2006, 5:06 a.m.) |
Deposited | 3 years, 4 months ago (April 13, 2022, 11:55 a.m.) |
Indexed | 3 weeks, 3 days ago (Aug. 2, 2025, 12:25 a.m.) |
Issued | 42 years, 7 months ago (Jan. 1, 1983) |
Published | 42 years, 7 months ago (Jan. 1, 1983) |
Published Online | 42 years, 7 months ago (Jan. 1, 1983) |
Published Print | 42 years, 7 months ago (Jan. 1, 1983) |
@article{Conner_1983, title={Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.}, volume={80}, ISSN={1091-6490}, url={http://dx.doi.org/10.1073/pnas.80.1.278}, DOI={10.1073/pnas.80.1.278}, number={1}, journal={Proceedings of the National Academy of Sciences}, publisher={Proceedings of the National Academy of Sciences}, author={Conner, B J and Reyes, A A and Morin, C and Itakura, K and Teplitz, R L and Wallace, R B}, year={1983}, month=jan, pages={278–282} }