title: DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.
abstract: DNA haplotype constellations of the beta-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and beta-thalassemias. The polymorphic patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by beta-thalassemia syndromes. With the combined analysis of seven restriction site polymorphisms a DNA-diagnostic prediction for additional offspring could be made with an overall frequency of 75% in the four ethnic groups.
mesh_terms: D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005006:Ethnicity; D005260:Female; D005860:Germany, West; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C047261:hemoglobin Freiburg; C017361:hemoglobin Presbyterian; D005914:Globins; D004247:DNA; C034409:hemoglobin Koln; D004262:DNA Restriction Enzymes