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Extensive molecular studies have characterized 15 dimorphic and 2 multiallelic genetic markers within the human alpha-globin gene cluster. Analysis of these markers in 9 populations has shown that the alpha-globin locus is remarkably polymorphic and is therefore an ideal marker on chromosome 16 for the construction of a human genetic linkage map. The combined analysis of 9 polymorphic markers has established alpha-globin haplotypes that provide the means to study the molecular genetics and common mutants of this cluster. The novel association of a conventional restriction fragment length polymorphism haplotype and linked, hypervariable regions of DNA should allow a comparison of the rate of change of such markers.

Original publication




Journal article


Proc Natl Acad Sci U S A

Publication Date





5165 - 5169


Alleles, DNA Restriction Enzymes, Genes, Genetic Linkage, Genetic Markers, Globins, Humans, Polymorphism, Genetic, Recombination, Genetic