Literature DB >> 6311728

Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family.

R Oehme, E Kohne, E Kleihauer, J Horst.   

Abstract

Chromosomal DNA from three individuals with familial hemoglobin M (Hb M) Milwaukee was studied by restriction endonuclease analysis. The segregation of the mutant beta-globin gene could be followed through three generations by direct Sst I analysis at the gene level. Various restriction endonucleases were used to confirm the positions of Sst I sites in the delta-beta A- and delta-beta Mi-globin gene regions.

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Year:  1983        PMID: 6311728     DOI: 10.1007/bf00292370

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


  15 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.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

3.  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

4.  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

5.  Analysis of the Hb M Milwaukee mutation at the DNA level.

Authors:  J Horst; R Schäfer; E Kleihauer; E Kohne
Journal:  Br J Haematol       Date:  1983-08       Impact factor: 6.998

6.  The structure and evolution of the human beta-globin gene family.

Authors:  A Efstratiadis; J W Posakony; T Maniatis; R M Lawn; C O'Connell; R A Spritz; J K DeRiel; B G Forget; S M Weissman; J L Slightom; A E Blechl; O Smithies; F E Baralle; C C Shoulders; N J Proudfoot
Journal:  Cell       Date:  1980-10       Impact factor: 41.582

7.  Hb M Milwaukee in a German family.

Authors:  E Kohne; F K Wendt; E Kleihauer
Journal:  Hemoglobin       Date:  1977       Impact factor: 0.849

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.  Human beta-globin messenger RNA. III. Nucleotide sequences derived from complementary DNA.

Authors:  C A Marotta; J T Wilson; B G Forget; S M Weissman
Journal:  J Biol Chem       Date:  1977-07-25       Impact factor: 5.157

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