Use of restriction endonucleases for mapping the allele for beta s-globin.

Abstract

We have reported the direct analysis ofthe allele for 13s-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 H, which also can distinguish the Ps allele from the normal 3-globin allele.

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

“…Second, the requirement for 20 jig DNA necessitates culture of amniotic fluid cells to provide sufficient material for diagnosis. A substantial increase in the specific activity of the probes would circumvent this problem and permit assay of DNA extracted directly from amniotic fluid cells, as can now be performed in the sickle-cell anemia diagnosis (19)(20)(21). Nevertheless, at present, the method we have described here should be useful in prenatal diagnosis by amniocentesis, particularly among Greek families.…”

Length polymorphisms in new human collagen‐like loci

“…DNA was isolated from the whole blood by a standard procedure [7], *Corresponding author. Fax: (1) (312) 508-3646.…”

Possible Applications of Recombinant DNA Technology to the Diagnosis and Study of Variants of α1-Antitrypsin

“…This approach has been very useful for the diagnosis of sickle cell anaemia, where the single base change causing a substitution of glutamic acid by valine at amino acid number 6, destroys a site for the enzyme MstII. [23][24][25] This means that MstII digests of DNA from individuals with the sickle cell gene will show different globin gene fragments when compared with the pattern from the normal gene. This difference is absolutely diagnostic for the mutation and has been used for antenatal diagnosis.…”