{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:40:58Z","timestamp":1760737258875,"version":"build-2065373602"},"reference-count":21,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,11]]},"abstract":"<jats:p>We have used four oligonucleotide probes and two restriction enzymes to detect the beta thalassaemia mutation in a group of 61 couples of Italian descent who were prospective parents. We have been able to define the beta thalassaemia mutation in both parents in 47 couples and in only one parent in 12 couples. Prenatal diagnosis was accomplished successfully either by amniocyte (two) or trophoblast (26) DNA analysis in 28 couples in which the pregnancy was in progress. These results indicate that direct identification of the mutation by oligonucleotide or restriction endonuclease analysis is a practical and useful method for prenatal diagnosis of beta thalassaemia in childless couples.<\/jats:p>","DOI":"10.1136\/jmg.25.11.762","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"762-765","source":"Crossref","is-referenced-by-count":7,"title":["Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations."],"prefix":"10.1136","volume":"25","author":[{"given":"M C","family":"Rosatelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Tuveri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M T","family":"Scalas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Di Tucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G B","family":"Leoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Furbetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Monni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"435","DOI":"10.3109\/03630268508997023","article-title":"Prenatal diagnosis of thalassaemia and of the hemoglobinopathies","volume":"4","author":"Loukopoulos, D.","year":"1985","unstructured":"Loukopoulos D. 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The same 3-globin gene mutation is present on nine different 3 thalassaemia chromosomes in a Sardinian population. Proc Natl Acad Sci USA 1987;84:2882-5.","journal-title":"Nature; The same 3-globin gene mutation is present on nine different 3 thalassaemia chromosomes in a Sardinian population"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"317","DOI":"10.3109\/03630268709042851","article-title":"Oligonucleotide screening of 3 thalassemia mutations in the South East of France","volume":"11","author":"Milland, M.; Berge-Lefranc, J.L.; Lena, D.; Cartouzou, G.","year":"1987","unstructured":"Milland M, Berge-Lefranc JL, Lena D, Cartouzou G. Oligonucleotide screening of 3 thalassemia mutations in the South East of France. 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