{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:06Z","timestamp":1761718026734},"reference-count":37,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":5925,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1989,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this study, we describe a simple strategy to detect \u03b2\u2010thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 \u03bcg of DNA), and rapidity (12\u201324 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non\u2010radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes.<\/jats:p>","DOI":"10.1002\/pd.1970090906","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T03:39:06Z","timestamp":1172979546000},"page":"629-638","source":"Crossref","is-referenced-by-count":53,"title":["Prenatal diagnosis of \u03b2\u2010thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes"],"prefix":"10.1002","volume":"9","author":[{"given":"M. S.","family":"Ristaldi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pirastu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Rosatelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Monni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Erlich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Saiki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.6.378"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1182\/blood.V70.1.147.147","article-title":"A new mutation in IVS\u20101 of the human \u03b2 globin gene causing \u03b2 thalassemia due to abnormal splicing","volume":"70","author":"Atweh G. F.","year":"1987","journal-title":"Blood"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113632"},{"key":"e_1_2_1_5_1","first-page":"71a","article-title":"A novel \u03b2 thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3\u2032 end of intron 2","volume":"70","author":"Beldjord C.","year":"1987","journal-title":"Blood"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1182\/blood.V71.5.1357.1357","article-title":"A single approach to prenatal diagnosis of \u03b2 thalassemia in geographic areas where multiple mutations occur","volume":"71","author":"Cai S. P.","year":"1988","journal-title":"Blood"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1989.tb04285.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291231"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1182\/blood.V69.4.1141.1141","article-title":"The molecular basis of \u03b2 thalassemia in Lebanon: application to prenatal diagnosis","volume":"69","author":"Chehab F. F.","year":"1987","journal-title":"Blood"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291226"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1182\/blood.V70.2.583.583","article-title":"A 300 bp deletion involving part of the 5\u2032 \u03b2 globin gene region is observed in members of a Turkish family with \u03b2 thalassemia","volume":"70","author":"Diaz\u2010Chico J. C.","year":"1987","journal-title":"Blood"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1988.tb02379.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1985.tb17185.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198310063091405"},{"key":"e_1_2_1_15_1","first-page":"68a","article-title":"\u03b2\u2010thalassemia mutations differ among various ethnic groups","volume":"62","author":"Kazazian H. H.","year":"1983","journal-title":"Blood"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/j.1460-2075.1984.tb01853.x","article-title":"Molecular characterization of seven \u03b2 thalassemic mutations in Asian Indians","volume":"3","author":"Kazazian H. H.","year":"1984","journal-title":"EMBO"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1182\/blood.V68.4.964.964","article-title":"The spectrum of \u03b2 thalassemia genes in China and South East Asia","volume":"68","author":"Kazazian H. H.","year":"1986","journal-title":"Blood"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630268609014138"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(86)80048-1"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(86)90808-1"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(87)55023-6"},{"key":"e_1_2_1_22_1","doi-asserted-by":"crossref","first-page":"9782","DOI":"10.1016\/S0021-9258(19)68689-8","article-title":"Nonsense and frameshift mutations in \u03b2\u00b0\u2010thalassemia detected in cloned \u03b2\u2010globin genes","volume":"256","author":"Orkin S. H.","year":"1981","journal-title":"J. Biol. Chem."},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.18.120184.001023"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110826"},{"key":"e_1_2_1_25_1","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1182\/blood.V64.1.311.311","article-title":"Abnormal processing of \u03b2 Knossos RNA","volume":"64","author":"Orkin S. H.","year":"1984","journal-title":"Blood"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198308043090506"},{"key":"e_1_2_1_27_1","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1182\/blood.V71.4.983.983","article-title":"Delineation of specific \u03b2 thalassemia mutations in high risk areas of Italy: a prerequisite for prenatal diagnosis","volume":"71","author":"Pirastu M.","year":"1988","journal-title":"Blood"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)91026-8"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.2.97"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/324163a0"},{"key":"e_1_2_1_31_1","first-page":"237","article-title":"Rapid genomic analysis of enzymatically amplified DNA with non\u2010radioactive allelic specific oligonucleotide probes","volume":"41","author":"Saiki R. K.","year":"1987","journal-title":"Am. J. Hum. Gen."},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198809013190903"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.239.4839.487"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.766"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/10.4.1283"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)92493-6"},{"key":"e_1_2_1_37_1","first-page":"69a","article-title":"Molecular characterization of two new \u03b2 thalassemia mutations in Mediterraneans","volume":"70","author":"Vidaud M.","year":"1987","journal-title":"Blood"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/330384a0"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970090906","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970090906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T02:50:55Z","timestamp":1697943055000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970090906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,9]]},"references-count":37,"journal-issue":{"issue":"9","published-print":{"date-parts":[[1989,9]]}},"alternative-id":["10.1002\/pd.1970090906"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970090906","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,9]]}}}