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

AUTOR(ES)

Kan, Y W

RESUMO

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.

Documentos Relacionados

• Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
• The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences.
• Intervening sequence of DNA identified in the structural portion of a mouse beta-globin gene.
• Genomic sequence of rat beta-globin major gene.
• Genomic sequence of rat beta-globin minor gene.