Abstract

We have reported the direct analysis of the allele for beta 2-globin by using restriction endonuclease Dde I coupled with blot-hybridization analysis. In that report we predicted that a major use of our analysis could be for the prenatal diagnosis of sickle cell anemia. Here we present such an analysis. In addition, this report also describes the use of a new enzyme Mst II, which also distinguish the beta s allele from the normal beta-globin allele. Blot-hybridization analysis with restriction endonuclease Mst II shows the 5' end of the normal beta-globin gene to reside on a fragment of approximately 1.14 kilobases, whereas the 5' end of the beta s-globin gene resides on a fragment of approximately 1.34 kilobases. Because the fragment sizes generated by Mst II are significantly larger than those generated by Dde I, one can easily perform a prenatal diagnosis for sickle cell by standard blot hybridizations onto nitrocellulose filters.

Keywords

Restriction enzymeMolecular biologySouthern blotBiologyAlleleRestriction fragment length polymorphismEndonucleaseGeneRestriction fragmentGeneticsGlobinRestriction mapPolymerase chain reactionPlasmid

MeSH Terms

Amniotic FluidAnemiaSickle CellBase SequenceChromosome MappingDNA Restriction EnzymesGlobinsHemoglobinSickleHumansThalassemia

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Publication Info

Year
1982
Type
article
Volume
79
Issue
11
Pages
3628-3631
Citations
80
Access
Closed

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Cite This

John T. Wilson, Paul Milner, Michael E. Summer et al. (1982). Use of restriction endonucleases for mapping the allele for beta s-globin.. Proceedings of the National Academy of Sciences , 79 (11) , 3628-3631. https://doi.org/10.1073/pnas.79.11.3628

Identifiers

DOI
10.1073/pnas.79.11.3628
PMID
6285354
PMCID
PMC346476

Data Quality

Data completeness: 86%