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A series of restriction fragment length polymorphisms which are due to DNA rearrangements have been identified within two highly variable regions flanking the human alpha globin genes. The existence of such highly polymorphic areas provides a large number of individual genetic markers for the alpha globin gene cluster on chromosome 16. If, as seems likely, such regions occur frequently throughout the human genome they should be of considerable value in the antenatal diagnosis of genetic disease.


Journal article


Nucleic Acids Res

Publication Date





4213 - 4224


Chromosomes, Human, 16-18 DNA/*analysis DNA Restriction Enzymes/metabolism Deoxyribonuclease BamHI Genetic Markers Globins/*genetics Human Polymorphism (Genetics) Thalassemia/genetics