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Detection of a restriction site polymorphism within the human α-globin gene complex

Human Genetics, ISSN: 0340-6717, Vol: 69, Issue: 2, Page: 144-146
1985
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A mutant RsaI restriction endonuclease site of high frequency has been identified in individuals of German, Greek, Italian, and Turkish origin. The mutation was found within the α-globin gene complex and is located 0.7 kb 5′ to the α-globin gene. In individuals of central European origin 34 out of 58 chromosomes exhibited the α-gene linkage to the presence of the polymorphic site, and thus a preliminary estimate of the gene frequency for this allele would be 0.59. DNA analysis data of individuals derived from Mediterranean populations indicate a distribution of this polymorphic marker in similar frequencies. © 1985 Springer-Verlag.

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