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APC gene mutations in Chinese familial adenomatous polyposis patients |
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| Authors: | Jian-Qiu Sheng Wei-Jia Cui Lei Fu Peng Jin Ying Han Shu-Jun Li Ru-Ying Fan Ai-Qin Li Ming-Zhi Zhang Shi-Rong Li |
| Institution: | Jian-Qiu Sheng, Lei Fu, Peng Jin, Ying Han, Shu-Jun Li, Ru-Ying Fan, Ai-Qin Li, Shi-Rong Li, Department of Gastroenterology, General Hospital of Beijing Military Region, Beijing 100700, ChinaWei-Jia Cui, Ming-Zhi Zhang, Department of Oncology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan Province, China |
| Abstract: | AIM:To study the characteristics of APC(adenomatous polyposis coli)gene germline mutation in Chinese patients with familial adenomatous polyposis(FAP).METHODS:APC gene from 14 FAP families was amplified by polymerase chain reaction(PCR)and underwent direct sequencing to determine the micromutation type.For the samples without micromutation,the large fragment deletion of APC gene was examined by multiplex ligation-dependent probe amplification(MLPA).RESULTS:There were gene micromutations in 9 families with a... |
| Keywords: | Adenomatous polyposis coli gene Familial adenomatous polyposis Large fragment deletion Multiplex ligation-dependent probe amplification Mutation |
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