Literature DB >> 3391614

Haemoglobin Freiburg: direct detection by synthetic oligonucleotide probes.

J Horst1, R Oehme, J T Epplen, E Kohne.   

Abstract

The molecular defect leading to Haemoglobin (Hb) Freiburg has been analysed using synthetic oligonucleotides. Oligonucleotide probes 19 residues and 16 residues long, corresponding to the normal and mutant beta-globin gene sequences, respectively, were used to develop a direct assay for the beta F-globin gene, which codes for an unstable haemoglobin. Under the conditions described here the use of the respective synthetic oligonucleotides should aid in the determination of all Hb Freiburg genotypes in families at risk with a high level of confidence.

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Year:  1988        PMID： 3391614     DOI： 10.1007/bf00280559

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


  12 in total

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Journal:  Schweiz Med Wochenschr       Date:  1962-10-20

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Journal:  Cell       Date:  1980-10       Impact factor: 41.582

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Journal:  N Engl J Med       Date:  1983-08-04       Impact factor: 91.245

4.  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

5.  Discrimination among the human beta A, beta S, and beta C-globin genes using allele-specific oligonucleotide hybridization probes.

Authors:  A B Studencki; B J Conner; C C Impraim; R L Teplitz; R B Wallace
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025

6.  Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

Authors:  A G DiLella; J Marvit; A S Lidsky; F Güttler; S L Woo
Journal:  Nature       Date:  1986 Aug 28-Sep 3       Impact factor: 49.962

7.  Oligonucleotide directed mutagenesis of the human beta-globin gene: a general method for producing specific point mutations in cloned DNA.

Authors:  R B Wallace; M Schold; M J Johnson; P Dembek; K Itakura
Journal:  Nucleic Acids Res       Date:  1981-08-11       Impact factor: 16.971

8.  Hybridization of synthetic oligodeoxyribonucleotides to phi chi 174 DNA: the effect of single base pair mismatch.

Authors:  R B Wallace; J Shaffer; R F Murphy; J Bonner; T Hirose; K Itakura
Journal:  Nucleic Acids Res       Date:  1979-08-10       Impact factor: 16.971

9.  Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.

Authors:  R T Jones; B Brimhall; T H Huisman; E Kleihauer; K Betke
Journal:  Science       Date:  1966-11-25       Impact factor: 47.728

10.  The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit beta-globin DNA.

Authors:  R B Wallace; M J Johnson; T Hirose; T Miyake; E H Kawashima; K Itakura
Journal:  Nucleic Acids Res       Date:  1981-02-25       Impact factor: 16.971
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  1 in total

1.  Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.

Authors:  J Schnee; C Aulehla-Scholz; A Eigel; J Horst
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132
  1 in total

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