Abstract
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-endonuclease analysis of DNA now permit the use of amniocentesis. A polymorphic HpaI site, present in 70 per cent of the American black population, was first used to diagnose the sickle mutation in the β-globin gene by linkage analysis.2 Recently the enzyme DdeI was shown to detect the sickle mutation directly in all cases.3 , 4 A drawback of the DdeI assay is that the amniotic cells must be cultured to provide a sufficient amount of DNA . . .
Keywords
AmniocentesisPrenatal diagnosisMedicineSickle cell anemiaChorionic villus samplingRestriction enzymeMutationPopulationThalassemiaGeneticsFetusPregnancyDNAGeneDiseasePathologyBiologyInternal medicine
MeSH Terms
AmniocentesisAnemiaSickle CellBase SequenceBeta-GlobulinsDNADNA Restriction EnzymesDeoxyribonucleasesType II Site-SpecificFemaleGenesRegulatorHumansNucleic Acid HybridizationPregnancyPrenatal Diagnosis
Affiliated Institutions
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Publication Info
- Year
- 1982
- Type
- article
- Volume
- 307
- Issue
- 1
- Pages
- 30-32
- Citations
- 201
- Access
- Closed
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Cite This
Judy C. Chang,
Yuet Wai Kan
(1982).
A Sensitive New Prenatal Test for Sickle-Cell Anemia.
New England Journal of Medicine
, 307
(1)
, 30-32.
https://doi.org/10.1056/nejm198207013070105
Identifiers
- DOI
- 10.1056/nejm198207013070105
- PMID
- 6176866