Literature DB >> 2307460

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

J Schnee1, C Aulehla-Scholz, A Eigel, J Horst.   

Abstract

Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to be a C----G substitution in codon 108; this eliminates a MaeII restriction site.

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Year:  1990        PMID： 2307460     DOI： 10.1007/bf00196236

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


  10 in total

1.  Direct sequencing of amplified DNA in prenatal diagnosis of beta-thalassaemia.

Authors:  C Aulehla-Scholz; R Spiegelberg; P Miny; W Holzgreve; A Eigel; B Dworniczak; J Horst
Journal:  Lancet       Date:  1989-02-11       Impact factor: 79.321

2.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

3.  A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.

Authors:  R Spiegelberg; C Aulehla-Scholz; H Erlich; J Horst
Journal:  Blood       Date:  1989-05-01       Impact factor: 22.113

4.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors:  U B Gyllensten; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

Review 5.  Haemoglobin D Punjab (D Los Angeles).

Authors:  F Vella; H Lehmann
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

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

Authors:  J Horst; R Oehme; E Kleihauer; E Kohne
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Hemoglobin Presbyterian [beta 108 (G10) Asn replaced by Lys] in a German family.

Authors:  E Kohne; L J Behnken; D Leupold; H Rogge; H Martin; E Kleihauer
Journal:  Hemoglobin       Date:  1979       Impact factor: 0.849

8.  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

9.  Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.

Authors:  C Wong; C E Dowling; R K Saiki; R G Higuchi; H A Erlich; H H Kazazian
Journal:  Nature       Date:  1987 Nov 26-Dec 2       Impact factor: 49.962

10.  Haemoglobin Freiburg: direct detection by synthetic oligonucleotide probes.

Authors:  J Horst; R Oehme; J T Epplen; E Kohne
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132
  10 in total
  2 in total

1.  Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome.

Authors:  K Kusz; M Kotecki; A Wojda; M Szarras-Czapnik; A Latos-Bielenska; A Warenik-Szymankiewicz; A Ruszczynska-Wolska; J Jaruzelska
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

2.  OCCURRENCE OF UNUSUAL HAEMOGLOBINOPATHIES IN BALOCHISTAN: HB SD AND HB SE - PRESENTATION WITH OSTEOMYELITIS.

Authors:  Usman Tauseef; Misbah Anjum; Mohsina Ibrahim; Hina Sabih Baqai; Abubakar Tauseef; Marium Tauseef; Muhammad Sohaib Asghar; Maryam Zafar; Uzma Rasheed; Nimra Shaikh
Journal:  Rev Paul Pediatr       Date:  2021-02-03
  2 in total

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