Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.
Restriction endonuclease mapping of the human globin genes revealed a genetic variation in a Hpa I recognition site about 5000 nucleotides from the 3' end of the beta-globin structural gene. Instead of a normal 7.6-kilobase (kb) fragment which contains the beta-globin structural gene, 7.0-kb and 13.0-kb variants were detected. Both variants were found in people of African origin and were not detected in Asians or Caucasians. The 13.0-kb variant is frequently associated with the sickle hemoglobin mutation and may be useful for the prediction of the sickle cell gene in prenatal diagnosis. Polymorphism in a restriction enzyme site could be considered as a new class of genetic marker and may offer a new approach to linkage analysis and anthropological studies.
D000755:Anemia, Sickle Cell / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000378:metabolism; D004262:DNA Restriction Enzymes; D005796:Genes; D014644:Genetic Variation; D005914:Globins / Q000096:biosynthesis* / Q000235:genetics; D006801:Humans; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic
D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes