分析的小片段APC基因的缺失在中国家族性腺瘤息肉病的患者,癌前病变。
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陈QW、张XM,周约,周X,马GJ,朱米,张YY, Yu J,冯摩根富林明,陈平方
分析的小片段APC基因的缺失在中国家族性腺瘤息肉病的患者,癌前病变。
亚洲Pac J癌症上一页。2015;16 (12):4915 - 20。doi: 10.7314 / apjcp.2015.16.12.4915。
- PubMed ID
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26163615 (在PubMed]
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背景:家族性腺瘤息肉病(FAP)是一种常染色体显性遗传疾病主要是由突变引起的腺瘤息肉病杆菌(APC)基因几乎完全外显率。这些结直肠息肉是癌前病变,将不可避免的发展为结直肠癌的平均年龄40岁如果总proctocolectomy不执行。所以APC的识别有很大的种系突变对FAP患者的遗传咨询和管理的影响。在这项研究中,我们在中国FAP患者筛选APC遗传突变,为了找到小说《APC基因突变和生殖系中国FAP患者的突变特征。材料与方法:FAP患者诊断的临床表现,家庭历史、内窥镜和活检。然后患者外周血样本收集,之后,提取基因组DNA。APC基因的突变分析是由直接聚合酶链反应(PCR)测序微小突变和多路复用ligation-dependent探测器放大(MLPA)大的重复和/或删除。结果:我们发现6微小突变出14 FAP的起源,虽然没有大的重复和/或删除。这些遗传突变c.5432C > T (p。Ser1811Leu),两个c。3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3' ,3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. CONCLUSIONS: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene.
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