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Literature DB >> 6309649

DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene.

Abstract

Restriction endonuclease mapping of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian beta-globin genes in a family with individuals heterozygous for this disease. The presence of the polymorphic Hind III restriction site in the G gamma-globin gene and its absence in the A gamma-globin gene were shown to be in phase with the Hb Presbyterian mutation yielding a haplotype constellation that is diagnostic for any further affected offspring.

Entities: Gene Mutation

Mesh：

Substances：

Year: 1983 PMID： 6309649 DOI： 10.1007/bf00279406

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

20 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

2. The structure of the human beta-globin gene in beta-thalassaemia.

Authors: R A Flavell; R Bernards; J M Kooter; E de Boer; P F Little; G Annison; R Williamson
Journal: Nucleic Acids Res Date: 1979-06-25 Impact factor: 16.971

3. A sensitive new prenatal test for sickle-cell anemia.

Authors: J C Chang; Y W Kan
Journal: N Engl J Med Date: 1982-07-01 Impact factor: 91.245

4. Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

Authors: S E Antonarakis; C D Boehm; P J Giardina; H H Kazazian
Journal: Proc Natl Acad Sci U S A Date: 1982-01 Impact factor: 11.205

5. The nucleotide sequence of the human beta-globin gene.

Authors: R M Lawn; A Efstratiadis; C O'Connell; T Maniatis
Journal: Cell Date: 1980-10 Impact factor: 41.582

6. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Authors: S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal: Nature Date: 1982-04-15 Impact factor: 49.962

7. Hemoglobin Presbyterian: beta108 (G10) asparagine leads to lysine, A hemoglobin variant with low oxygen affinity.

Authors: W F Moo-Penn; J A Wolff; G Simon; M Vacek; D L Jue; M H Johnson
Journal: FEBS Lett Date: 1978-08-01 Impact factor: 4.124

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

Authors: Y W Kan; A M Dozy
Journal: Proc Natl Acad Sci U S A Date: 1978-11 Impact factor: 11.205

9. Insertion of synthetic copies of human globin genes into bacterial plasmids.

Authors: J T Wilson; L B Wilson; J K deRiel; L Villa-komaroff; A Efstratiadis; B G Forget; S M Weissman
Journal: Nucleic Acids Res Date: 1978-02 Impact factor: 16.971

10. Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.

Authors: Y W Kan; K Y Lee; M Furbetta; A Angius; A Cao
Journal: N Engl J Med Date: 1980-01-24 Impact factor: 91.245

5 in total

5. DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.

Authors: R Oehme; E Kohne; J Horst
Journal: Hum Genet Date: 1985 Impact factor: 4.132