Open AccessDetection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.
Author(s) -
Brenda J. Conner,
Antonio A. Reyes,
C Morin,
Keiichi Itakura,
Raymond L. Teplitz,
R. Bruce Wallace
Publication year - 1983
Publication title -
proceedings of the national academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.80.1.278
Subject(s) - oligonucleotide , microbiology and biotechnology , beta (programming language) , biology , gene , globin , nucleic acid thermodynamics , dna , hybridization probe , point mutation , beta globulins , oligomer restriction , genetics , mutation , rna , gamma globulin , computer science , programming language , antibody
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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