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PMID: 281713 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

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

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 75 ·No. 11 ·1978-11-00 ·Pages 5631-5

Kan YW, Dozy AM

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.

MeSH Terms
Anemia, Sickle Cell/genetics Base Sequence DNA/metabolism DNA Restriction Enzymes Genes Genetic Variation Globins/biosynthesis,genetics Humans Nucleic Acid Hybridization Polymorphism, Genetic
Chemicals
Globins DNA DNA Restriction Enzymes
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Kan Y W
Dozy A M
References (21)
21 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.75.11.5631
Published
1978-11-00
Pages
5631-5
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC393021
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.75.11.5631 PMC Full Text View journal details
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