Detection of a restriction site polymorphism within the human alpha-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 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.
Assum
G
G
Griese
E U
EU
Horst
J
J
D000483:Alleles; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005796:Genes; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic
D005914:Globins; D004262:DNA Restriction Enzymes; C024408:endodeoxyribonuclease SacI; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases