مونتاژ ژنها، روش جدیدی برای شناسایی جهشهایی ژنتیکی، کاربردی اساسی برای بررسی مولکولی ژنهای پیچیده مرتبط با سرطان ارثی پستان

Background : Most of the offending genes of diseases are quite big and complex with varieties of exons. Gene montage is a new technique for formation of a big linked DNA segment that could be easily detected by DNA sequencing or Denaturing High Performance Liquid Chromatography (DHPLC). Methods : Exons 2,20,23 and 24 of BRCA1 gene were linked and analyzed by DNA sequencing. Exons 2 and 20 are important exons that have recognized genetic mutations. Thus, the aforementioned exons were linked as follow: 23-20-2-24. Results : First, the wild type linked-DNA was analyzed by DNA sequencing in order to control the linkage protocol. Then, three previously recognized mutant DNA were analyzed by this technique in order to verify its clinical application in detecting gene mutation. All 3 mutations were detected by this technique. Conclusion : Gene montage technique can be easily employed in order to detect complex gene mutations such as those in BRCA1/2. Gene mutation detection is the true clinical application of this technique that can be used in genetic and screening laboratories.