Trans Assoc Am Physicians. 1982;95:71-8.

A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII.

Abstract

The restriction endonuclease MstII cleaves the human beta-globin gene at the position corresponding to amino acids 5, 6, and 7. The beta S mutation at this position abolishes the recognition site. Hence, the two normal DNA fragments in this region, 1.15 and 0.2 kb in length, are replaced by a single 1.35-kb fragment in DNA from sickle cell anemia. We have set up an assay using these findings. The assay is extremely sensitive and can be applied to DNA directly harvested from 20 ml of amniotic fluid.

PMID:: 6304979; [PubMed - indexed for MEDLINE]

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A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis o...
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A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII.

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