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PMID: 6270195 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.

The Journal of clinical investigation ·Vol. 68 ·No. 4 ·1981-10-00 ·Pages 915-9

Driscoll MC, Baird M, Bank A, Rachmilewitz EA

Abstract

A new polymorphism in the beta-globin is described, using the restriction enzyme Asu I. A radioactive probe specifically representing the large intervening sequence (IVS 2) of the beta-globin gene has been used to detect this polymorphism. Normally, a 0.8-kilobase fragment containing beta-IVS 2 is generated by Asu I; however, a 1.0-kilobase fragment is seen in association with 18% of beta A-genes, and 38% of beta-thalassemia genes in an Israeli population studied. By contrast, the Asu I polymorphism has rarely been seen in blacks examined to date. An additional Asu I change is seen the the delta-globin gene with a delta-IVS probe. The beta-Asu I polymorphism is shown to be useful in the antenatal diagnosis of beta-thalassemia.

MeSH Terms
Base Sequence DNA Restriction Enzymes/genetics Deoxyribonucleases, Type II Site-Specific Genes Globins/genetics Hemoglobin H Humans Pedigree Polymorphism, Genetic Thalassemia/diagnosis,genetics
Chemicals
Globins Hemoglobin H DNA Restriction Enzymes Deoxyribonucleases, Type II Site-Specific GGNCC-specific type II deoxyribonucleases
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Driscoll M C
Baird M
Bank A
Rachmilewitz E A
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21 references, click to expand
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/jci110346
Published
1981-10-00
Pages
915-9
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC370878
Subset
IM
Grants
NIADDK NIH HHS · AM-07373 · United States
NIADDK NIH HHS · AM-25274 · United States
NIGMS NIH HHS · GM-07419 · United States
External Links
PubMed source DOI: 10.1172/jci110346 PMC Full Text View journal details
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