{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T15:56:32Z","timestamp":1700322992412},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2002,9,4]],"date-time":"2002-09-04T00:00:00Z","timestamp":1031097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Crigler\u2013Najjar syndrome type I (CN\u2010I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin\u2010UDP\u2010glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the <jats:italic>UGT1<\/jats:italic> gene and the identification of disease\u2010causing mutations have led to the possibility of performing DNA\u2010based diagnosis. Here we report DNA\u2010based prenatal diagnosis of CN\u2010I in two Tunisian families in whom CN\u2010I patients were diagnosed. As we had previously shown that CN\u2010I was, in Tunisia, associated with homozygosity for the Q357R mutation within the <jats:italic>UGT1<\/jats:italic> gene, we were able to detect this mutation in both families and to show that it was easily recognized by single\u2010strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN\u2010I is possible, provided disease\u2010causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.443","type":"journal-article","created":{"date-parts":[[2002,10,14]],"date-time":"2002-10-14T16:40:50Z","timestamp":1034613650000},"page":"914-916","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal diagnosis of Crigler\u2013Najjar syndrome type I by single\u2010strand conformation polymorphism (SSCP)"],"prefix":"10.1002","volume":"22","author":[{"given":"Jeanne","family":"Francoual","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Trioche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chahnez","family":"Mokrani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassen","family":"Seboui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na\u00efma","family":"Khrouf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Chalas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Clement","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliane","family":"Capel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e9rard","family":"Tachdjian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Labrune","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,9,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(69)90224-1"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840150531"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199511023331802"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<173::AID-AJMG10>3.0.CO;2-R"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130211"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10064"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.7.551"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.244"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00206965"},{"key":"e_1_2_1_12_1","first-page":"61","article-title":"Mise au point et int\u00e9r\u00eat du diagnostic de la maladie de Gilbert par biologie mol\u00e9culaire","volume":"59","author":"Le Bihan\u2010Levaufre B","year":"2001","journal-title":"Ann Biol Clin"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199609)16:9<862::AID-PD954>3.0.CO;2-9"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115829"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.2.122"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.443","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.443","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T15:08:23Z","timestamp":1700320103000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,4]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["10.1002\/pd.443"],"URL":"https:\/\/doi.org\/10.1002\/pd.443","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9,4]]}}}