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PMID: 6572002 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 80 ·No. 1 ·1983-01-00 ·Pages 278-82

Conner BJ, Reyes AA, Morin C, Itakura K, Teplitz RL, Wallace RB

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.

MeSH Terms
Alleles Base Sequence Genes Globins/genetics Hemoglobin, Sickle/genetics Humans Nucleic Acid Hybridization Oligodeoxyribonucleotides/chemical synthesis Temperature
Chemicals
Hemoglobin, Sickle Oligodeoxyribonucleotides Globins
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Conner B J
Reyes A A
Morin C
Itakura K
Teplitz R L
Wallace R B
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28 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.80.1.278
Published
1983-01-00
Pages
278-82
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC393356
Subset
IM
Grants
NCI NIH HHS · CA16434 · United States
NHLBI NIH HHS · HL 29516 · United States
External Links
PubMed source DOI: 10.1073/pnas.80.1.278 PMC Full Text View journal details
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