Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

摘要: Restriction endonuclease mapping of the human globin genes revealed a genetic variation in Hpa I recognition site about 5000 nucleotides from 39 end beta-globin structural gene. Instead normal 7.6-kilobase (kb) fragment which contains gene, 7.0-kb and 13.0-kb variants were detected. Both found people African origin not detected Asians or Caucasians. The variant is frequently associated with sickle hemoglobin mutation may be useful for prediction cell gene prenatal diagnosis. Polymorphism restriction enzyme could considered as new class marker offer approach to linkage analysis anthropological studies.