Tuyển tập các báo cáo nghiên cứu khoa học ngành y học tạp chí Medical Sciences dành cho các bạn sinh viên ngành y tham khảo đề tài: Mutation Analysis of hCDC4 in AML Cells Identifies a New Intronic Polymorphism. | Int. J. Med. Sci. 2006 3 148 Short Research Communication International Journal of Medical Sciences ISSN 1449-1907 2006 3 4 148-151 2006 Ivyspring International Publisher. All rights reserved Mutation Analysis of hCDC4 in AML Cells Identifies a New Intronic Polymorphism Daniel Nowak Maximilian Mossner Claudia D. Baldus Olaf Hopfer Eckhard Thiel and Wolf-Karsten Hofmann Department of Hematology Oncology and Transfusion Medicine Charité University Hospital Benjamin Franklin Berlin Germany Correspondence to Daniel Nowak MD Charité Campus Benjamin Franklin Department of Hematology Oncology and Transfusion Medicine Hindenburgdamm 30 12203 Berlin Germany. Phone 49 0 30 8445 2931 Fax 49 0 30 8445 4468 Email Received Accepted Published hCDC4 FBW7 FBXW7 is a new potential tumor suppressor gene which provides substrate specificity for SCF Skp-Cullin-F-box ubiquitin ligases and thereby regulates the degradation of potent oncogenes such as cyclin E Myc c-Jun and Notch. Mutations in the hCDC4 gene have been found in several solid tumors such as pancreas colorectal or endometrial cancer. We carried out a mutation analysis of the hCDC4 gene in 35 samples of patients with Acute Myeloid Leukemia AML to elucidate a possible role of hCDC4 mutations in this disease. By direct DNA sequencing and digestion with Surveyor nuclease one heterozygous mutation in the 5 untranslated region of exon 1 transcript variant 3 was detected. Additionally we could identify a new intronic SNP downstream of exon 10. The new variation was present in 20 of AML samples and was furthermore confirmed in a panel of 51 healthy individuals where it displayed a frequency of 14 . In conclusion we provide first data that in contrast to several solid tumors mutations in the hCDC4 gene may not play a pivotal role in the pathogenesis of AML. Furthermore we describe a new intronic polymorphism with high frequency in the intron sequence of the hCDC4
