[家族性腺瘤性息肉病家系中APC基因C.3925_3929缺失突变分析]
[Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis].
作者信息
Chen Qingwei, Liu Siwen, Feng Jifeng, Zhang Xiaomei, Chen Senqing, Ma Guojian, Zhu Ming, Zhang Yuanying, Yu Jun
机构信息
Department of Medical Oncology, Jiangsu Institute of Cancer Research, Jiangsu Cancer Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210009, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):524-8. doi: 10.3760/cma.j.issn.1003-9406.2015.04.017.
OBJECTIVE
To analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).
METHODS
Genomic DNA was extracted from peripheral blood samples from members of the 13 FAP pedigrees. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large fragment deletions of the APC gene. Subsequently, potential mutation was screened from all exons of the APC gene with PCR amplification and direct sequencing.
RESULTS
Germline mutations have been identified in 5 FAP pedigrees, which included c.3184_3187delCAAA, c.5432C>T, c.3925_3928delAAAA and c.3925_3929del AAAAG(in two pedigrees). Small deletional mutations were found primarily in the area of AAAAG tandem repeat sequences.
CONCLUSION
C.3925_3929 located in AAAAG tandem repeats is probably the hot spot for APC gene mutations, which are mostly deletional mutations, especially the 5 bp base deletion at codon 1309.
目的
分析家族性腺瘤性息肉病（FAP）家系中腺瘤性息肉病 coli（APC）基因种系突变的特征。
方法
从13个FAP家系成员的外周血样本中提取基因组DNA。采用多重连接依赖探针扩增（MLPA）检测APC基因的大片段缺失。随后，通过PCR扩增和直接测序从APC基因的所有外显子中筛选潜在突变。
结果
在5个FAP家系中鉴定出种系突变，包括c.3184_3187delCAAA、c.5432C>T、c.3925_3928delAAAA和c.3925_3929del AAAAG（在两个家系中）。小的缺失突变主要发现在AAAAG串联重复序列区域。
结论
位于AAAAG串联重复序列中的C.3925_3929可能是APC基因突变的热点，这些突变大多是缺失突变，尤其是密码子1309处的5 bp碱基缺失。
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