Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.
- 1 May 1979
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 76 (5), 2400-2404
- https://doi.org/10.1073/pnas.76.5.2400
Abstract
Restriction endonuclease mapping of cell DNA was used to investigate the structure of the .beta.-globin gene in .beta.-thalassemias. Among 17 individuals with .beta.+- and .beta.O-thalassemia, 3 patients of Indian origin with .beta.O-thalassemia whose DNA revealed a consistent mapping abnormality. In 1 .beta. allele in each diploid cell, 0.6 kilobase of DNA was deleted from .beta.-specific Pst I and Bg/II restriction fragments. This deletion involved 3'' .beta.-globin gene sequences and eliminated the EcoRI site normally present at codons 121/122, but it did not extend to the BamHI site at codons 98-100 on the 5'' side of the 0.90-kilobase intervening sequence normally present in .beta.-globin genes. Partial .beta.-globin gene deletion appears to be a primary molecular defect seen in certain patients with .beta.O-thalassemia.This publication has 27 references indexed in Scilit:
- The duplicated human alpha globin genes lie close together in cellular DNA.Proceedings of the National Academy of Sciences, 1978
- The isolation and characterization of linked δ- and β-globin genes from a cloned library of human DNACell, 1978
- Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.Proceedings of the National Academy of Sciences, 1978
- Analysis of the β-δ-globin gene loci in normal and hb lepore DNA: Direct determination of gene linkage and intergene distanceCell, 1978
- Organization of human δ- and β-globin genes in cellular DNA and the presence of intragenic insertsCell, 1978
- Restriction endonuclease analysis of human globin genes in cellular DNABiochemical and Biophysical Research Communications, 1978
- Application of Endonuclease Mapping to the Analysis and Prenatal Diagnosis of Thalassemias Caused by Globin-Gene DeletionNew England Journal of Medicine, 1978
- Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disordersProceedings of the National Academy of Sciences, 1978
- ABSENCE OF BETA-MESSENGER MESSENGER-RNA IN BETA-0-THALASSEMIA IN KURDISH JEWS1978
- THE FUSION OF TWO PEPTIDE CHAINS IN HEMOGLOBIN LEPORE AND ITS INTERPRETATION AS A GENETIC DELETIONProceedings of the National Academy of Sciences, 1962