Abstract
Restriction endonuclease mapping of the human globin genes revealed a genetic variation in a Hpa I recognition site about 5000 nucleotides from the 3' end of the beta-globin structural gene. Instead of a normal 7.6-kilobase (kb) fragment which contains the beta-globin structural gene, 7.0-kb and 13.0-kb variants were detected. Both variants were found in people of African origin and were not detected in Asians or Caucasians. The 13.0-kb variant is frequently associated with the sickle hemoglobin mutation and may be useful for the prediction of the sickle cell gene in prenatal diagnosis. Polymorphism in a restriction enzyme site could be considered as a new class of genetic marker and may offer a new approach to linkage analysis and anthropological studies.
Keywords
GeneticsRestriction enzymeGeneBiologyRestriction fragment length polymorphismGlobinMolecular biologyEndonucleaseMutationGenotype
MeSH Terms
AnemiaSickle CellBase SequenceDNADNA Restriction EnzymesGenesGenetic VariationGlobinsHumansNucleic Acid HybridizationPolymorphismGenetic
Related Publications
Use of restriction endonucleases for mapping the allele for beta s-globin.
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 predicte...
A Sensitive New Prenatal Test for Sickle-Cell Anemia
METHODS for prenatal diagnosis of sickle-cell anemia are improving rapidly.1 Initially the diagnostic procedure required fetal blood sampling, but new techniques for restriction...
Direct identification of sickle cell anemia by blot hybridization.
Several reports have been published on the use of polymorphisms found in the human hemoglobin genes as a means for prenatal diagnosis of sickle cell anemia. The disadvantages of...
Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia. The first involves the primer-mediated enzymatic amplificati...
Specific cleavage analysis of mammalian mitochondrial DNA.
Mitochondrial DNA from several mammalian species has been digested with a site-specific restriction endonuclease (HaeIII) from Haemophilus aegyptius. A quantitative analysis of ...
Publication Info
- Year
- 1978
- Type
- article
- Volume
- 75
- Issue
- 11
- Pages
- 5631-5635
- Citations
- 800
- Access
- Closed
External Links
Social Impact
Altmetric
PlumX Metrics
Social media, news, blog, policy document mentions
Citation Metrics
800
OpenAlex
5
Influential
Cite This
Y Kan,
A M Dozy
(1978).
Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation..
Proceedings of the National Academy of Sciences
, 75
(11)
, 5631-5635.
https://doi.org/10.1073/pnas.75.11.5631
Identifiers
- DOI
- 10.1073/pnas.75.11.5631
- PMID
- 281713
- PMCID
- PMC393021