作者: Tone Ikdahl Andersen , Hans Geir Eiken , Fergus Couch , Grete Kaada , Martina Skrede
DOI: 10.1002/(SICI)1098-1004(1998)11:2<166::AID-HUMU10>3.0.CO;2-X
关键词: Complementary DNA 、 Genetics 、 Coding region 、 Gel electrophoresis 、 genomic DNA 、 Single-strand conformation polymorphism 、 Gene 、 Exon 、 Molecular biology 、 Mutation 、 Biology
摘要: Screening for mutations in the breast and ovarian cancer susceptibility gene, BRCA1, is complicated by wide spectrum of found this large gene. In present study a constant denaturant gel electrophoresis (CDGE) mutation screening strategy was established ˜80% genomic coding sequence (exons 2, 11, 13–16, 20, 24). This applied to screen DNA from 50 familial and/or patients who had previously been examined BRCA1 SSCP. A total 14 carriers 12 distinct disease-associated 7 6 rare substitutions leading amino acid were identified. The SSCP failed detect 40% different deletions/insertions (4/10) 75% (6/8) base terminating codons or changes. did, however, identify one substitution that could not be detected CDGE screening. To evaluate further, 25 unrelated Norwegian families using combined DNA/cDNA approach covering entire six detected, all whom cases their families. Three independent carried an 1135insA exon two others Gly484ter 1675delA mutation, respectively, sixth splice (5194-2 ac) causing deletion 18. may become efficient tool diagnostic population based mutations. Hum Mutat 11:166–174, 1998. © 1998 Wiley-Liss, Inc.