Literature DB >> 3001310

Prenatal diagnosis of the common haemoglobin disorders.

D J Weatherall, J M Old, S L Thein, J S Wainscoat, J B Clegg.   

Abstract

New techniques of DNA analysis have been applied to the prenatal diagnosis of the common haemoglobin disorders. Currently, it is possible to provide a comprehensive programme for the prevention of these conditions, although this entails the use of several different techniques including globin chain synthesis analysis, direct identification of mutations with restriction enzymes, linkage analysis of restriction fragment length polymorphisms, and the use of oligonucleotide probes. At present, the best combination of these approaches has to be worked out for individual populations, but as the techniques of chorion villus sampling and DNA analysis improve it should be possible to rationalise these prenatal diagnosis programmes and thus make them simpler and less expensive.

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Year:  1985        PMID: 3001310      PMCID: PMC1049501          DOI: 10.1136/jmg.22.6.422

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  25 in total

Review 1.  Prenatal diagnosis of inherited blood diseases.

Authors:  D J Weatherall
Journal:  Clin Haematol       Date:  1985-10

2.  The molecular basis for the clinical diversity of beta thalassaemia in Cypriots.

Authors:  J S Wainscoat; J M Old; D J Weatherall; S H Orkin
Journal:  Lancet       Date:  1983-06-04       Impact factor: 79.321

3.  First-trimester fetal diagnosis for haemoglobinopathies: three cases.

Authors:  J M Old; R H Ward; M Petrou; F Karagözlu; B Modell; D J Weatherall
Journal:  Lancet       Date:  1982-12-25       Impact factor: 79.321

4.  Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells.

Authors:  Y W Kan; A M Dozy
Journal:  Lancet       Date:  1978-10-28       Impact factor: 79.321

5.  Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis.

Authors:  S H Orkin; P F Little; H H Kazazian; C D Boehm
Journal:  N Engl J Med       Date:  1982-07-01       Impact factor: 91.245

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.  Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

Authors:  B J Conner; A A Reyes; C Morin; K Itakura; R L Teplitz; R B Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1983-01       Impact factor: 11.205

8.  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

9.  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

10.  Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.

Authors:  C D Boehm; S E Antonarakis; J A Phillips; G Stetten; H H Kazazian
Journal:  N Engl J Med       Date:  1983-05-05       Impact factor: 91.245

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  8 in total

Review 1.  Restriction enzymes and their use in molecular biology: An overview.

Authors:  Francesca DI Felice; Gioacchino Micheli; Giorgio Camilloni
Journal:  J Biosci       Date:  2019-06       Impact factor: 1.826

2.  RFLP-discordance within the human phenylalanine hydroxylase locus.

Authors:  O Riess; A Michel; W Berger; P Nürnberg; J T Epplen; A Speer; C Coutelle
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

Review 3.  Diagnosis of genetic disease using recombinant DNA. Second edition.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

4.  Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations.

Authors:  M C Rosatelli; T Tuveri; M T Scalas; A Di Tucci; G B Leoni; M Furbetta; G Monni; A Cao
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

5.  Counselling for prenatal diagnosis of sickle cell disease and beta thalassaemia major: a four year experience.

Authors:  E N Anionwu; N Patel; G Kanji; H Renges; M Brozović
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

Review 6.  Biochemical diagnosis of genetic disease.

Authors:  H Galjaard
Journal:  Experientia       Date:  1986-10-15

Review 7.  Prenatal diagnosis of common genetic disorders.

Authors:  M D Crawfurd
Journal:  BMJ       Date:  1988 Aug 20-27

Review 8.  Impact of molecular biology on clinical genetics.

Authors:  M Pembrey
Journal:  Br Med J (Clin Res Ed)       Date:  1987-09-19
  8 in total

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