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. 1978 Nov;75(11):5631–5635. doi: 10.1073/pnas.75.11.5631

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

Y W Kan, A M Dozy
PMCID: PMC393021  PMID: 281713

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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