Hemoglobin Köln: analysis of linkage relationships between the mutant gene and polymorphic restriction sites in the beta-globin gene cluster.
Nuclear DNA has been analyzed by means of restriction endonuclease mapping procedure to identify chromosomes that carry mutant Hb Köln beta-globin genes in a family with individuals heterozygous for this disease. Inherited DNA polymorphisms within the beta-globin gene cluster yielded a direct linkage of the Hb Köln mutation to haplotype constellations that are diagnostic for further offspring.
D002352:Carrier Proteins / Q000378:metabolism; D002874:Chromosome Mapping; D004247:DNA / Q000378:metabolism; D004262:DNA Restriction Enzymes / Q000378:metabolism; D004268:DNA-Binding Proteins; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D006455:Hemoglobins, Abnormal; D004247:DNA; C034409:hemoglobin Koln; D004262:DNA Restriction Enzymes