چاپ صفحه |  صفحه نخست سامانه |  نویسندگان |  اطلاعات تفضیلی |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده | نفر چندم مقاله |
|---|---|
| سید کاظم میری نژاد | اول |
| سید یعقوب مودب | دوم |
| مرتضی جبارپور بنیادی | سوم |
| امیرطاهر افتخارسادات | چهارم |
| سوسن میرنجدگرامی | پنجم |
| محمد حسین صومی | ششم |
| عنوان | متن |
|---|---|
| خلاصه مقاله | Introduction: Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder, which can develop into cancer in early adulthood (100%). Mutation in adenomatous polyposis coli (APC) gene is the cause of FAP. Mutational hotspots in the APC gene are located in the 5′ part of exon 15; this region is termed the mutation cluster region (MCR). AIM: To study the characteristics of APC gene germline mutation in proband FAP patients. Methods: The diagnosis was made based on clinical manifestations, family history and presence of more than hundred polyps in the colon as well as pathological examination. Peripheral blood samples were collected, and genomic DNA was extracted. Two sets of oligonucleotide primers were designed to amplify from codon 999 to codon 1410 of MCR in the APC gene. Potential mutation of the APC gene was detected by polymerase chain reaction (PCR) and DNA sequencing. Results: We identifed germline APC gene mutations in 19 of the 30 FAP patients (63%), including a novel frame shift mutation (c.3416 deletion A, P. Lysine 1139 Serine, Stop at 1165), two novel nonsense mutations (G 4069T, P. Gly 1357stop codon and A3595T, p. Lys 1199 stop codon) and 16 missense point mutations. Thus, 16% of the mutations were predicted to result in truncations of the APC protein. The most of mutations were including A > G (AAA →GAA) at nucleotide 3922 and 4048 in codon 1308 (26%) and 1350 (21%) respectively. these causes replacement of Lysine with Glutamine. Conclusion: It seems that MCR of exon 15 in APC gene is probably the hotspot region in Iranian classic FAP patients. |
| کلمات کلیدی | APC, familial adenomatous polyposis , Iran |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| ICGH 2017Germline Mutations of the APC.pdf | 1399/07/22 | 489318 | دانلود |
| certificate-ICGH 2017.pdf | 1399/07/22 | 80722 | دانلود |
