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

A mutant Rsa I restriction endonuclease site of high frequency has been identified in individuals of German, Greek, Italian, and Turkish origin. The mutation was found within the alpha-globin gene complex and is located 0.7 kb 5' to the alpha 2-globin gene. In individuals of central European or...

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Veröffentlicht in:	Human genetics 1985-01, Vol.69 (2), p.144-146
Hauptverfasser:	ASSUM, G, GRIESE, E.-U, HORST, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Biological and medical sciences Chromosome Mapping Deoxyribonucleases, Type II Site-Specific DNA Restriction Enzymes Female Fundamental and applied biological sciences. Psychology Genes Genetics of eukaryotes. Biological and molecular evolution Genotype Globins - genetics Human Humans Male Pedigree Polymorphism, Genetic Population genetics, reproduction patterns
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Zusammenfassung:	A mutant Rsa I restriction endonuclease site of high frequency has been identified in individuals of German, Greek, Italian, and Turkish origin. The mutation was found within the alpha-globin gene complex and is located 0.7 kb 5' to the alpha 2-globin gene. In individuals of central European origin 34 out of 58 chromosomes exhibited the alpha-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.
ISSN:	0340-6717 1432-1203
DOI:	10.1007/BF00293285