Literature DB >> 6150322

A new DNA polymorphism for prenatal diagnosis of beta-thalassaemia in Mediterranean populations.

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

Abstract

The prevalence of a new polymorphism for the restriction enzyme Ava II in the psi beta-gene of the beta-globin gene cluster was determined in Mediterranean families with at least one beta-thalassaemia homozygote. The polymorphic site was absent in 54/115 beta-thalassaemic chromosomes but only in 4/120 normal chromosomes. The difference in frequencies of this polymorphism between normal and thalassaemic chromosomes greatly increases the feasibility of prenatal diagnosis of beta-thalassaemia by DNA analysis in this population.

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Year:  1984        PMID： 6150322     DOI： 10.1016/s0140-6736(84)90820-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  8 in total

1.  Molecular characterization of beta-thalassemia mutations in Egypt.

Authors:  A Novelletto; M Hafez; G Deidda; A Di Rienzo; L Felicetti; H el-Tahan; Z el Morsi; M el-Ziny; Y al-Tonbary; A Sittien
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

2.  The molecular basis of beta thalassaemia in Bulgaria.

Authors:  L Kalaydjieva; A Eigel; J Horst
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

Review 3.  Prenatal diagnosis of the common haemoglobin disorders.

Authors:  D J Weatherall; J M Old; S L Thein; J S Wainscoat; J B Clegg
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

4.  Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster.

Authors:  J M Old; C Heath; A Fitches; S L Thein; A J Jeffreys; M Petrou; B Modell; D J Weatherall
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

Review 5.  The evolution of the alpha- and beta-globin gene clusters in human populations.

Authors:  A V Hill; J S Wainscoat
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

6.  DNA haplotype distribution in Algerian beta thalassaemia patients. An extended evaluation by family studies and representative molecular characterization.

Authors:  F Rouabhi; C Lapouméroulie; S Amselem; R Krishnamoorthy; L Adjrad; R Girot; P Chardin; M Benabdji; D Labie; C Beldjord
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

7.  Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

Authors:  C Camaschella; A Serra; G Saglio; M T Bertero; U Mazza; S Terzoli; B Brambati; L Cremonesi; M Travi; M Ferrari
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

8.  Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-1 C-III A-IV gene region and hypertriglyceridemia.

Authors:  J Stocks; H Paul; D Galton
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025
  8 in total

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