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PMID: 6826735 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis.

The Journal of clinical investigation ·Vol. 71 ·No. 3 ·1983-03-00 ·Pages 775-9

Orkin SH, Markham AF, Kazazian HH

Abstract

The most common form of beta-thalassemia among Mediterraneans results from a single nucleotide substitution within the first intervening sequence (IVS-1) of the beta-globin gene. This particular mutation is not detectable in uncloned DNA by restriction enzyme analysis. Using synthetic DNA of 19-nucleotides in length corresponding to the normal and mutant IVS-1 sequences as probes, we have developed a direct assay for this gene defect. Under carefully controlled experimental conditions these synthetic probes detect only their homologous sequences in restriction digests of both cloned and uncloned DNA samples. The method is sufficiently sensitive to establish the genotype of individuals with respect to this defect using approximately 20 micrograms total DNA. This assay provides an alternative to fetal blood and DNA linkage analysis for the prenatal diagnosis of this variety of beta-thalassemia, particularly among Greek families where it is especially common.

MeSH Terms
Cloning, Molecular DNA, Recombinant/isolation & purification Female Humans Nucleic Acid Hybridization Pregnancy Prenatal Diagnosis Thalassemia/diagnosis,genetics
Chemicals
DNA, Recombinant
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Orkin S H
Markham A F
Kazazian H H
References (21)
21 references, click to expand
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/jci110826
Published
1983-03-00
Pages
775-9
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC436929
Subset
IM
External Links
PubMed source DOI: 10.1172/jci110826 PMC Full Text View journal details
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