CFTR基因的TG[m]T[n]重复是在内含子8里吗?
各位老师,我们对CBAVD患者(先天性双侧输精管缺如)常行CFTR基因检测,基因检测报告上会写"在8号内含子中发现TG[12]T[7]这样的突变",很多文献也都是报道8号内含子这个著名突变。(例如《Variable detection of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium》和《CFTR gene mutations--including three novel nucleotide substitutions - And haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease》等等)
但我查看NCBI及LRG中CFTR的序列NG_016465.4与LRG_663(两者是等价的),发现TG[m]T[n]重复这样的重复只存在于9号内含子靠近10号外显子区域,以下摘录部分9号内含子(小写字母)与完整10号外显子(大写字母)的序列:
tgaaaatatctgacaaactcatcttttatttttgatgtgtgtgtgtgtgtgtgtgtgtttttttaacagGGATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAATAACAATAGAAAAACTTCTAATGGTGATGACAGCCTCTTCTTCAGTAATTTCTCACTTCTTGGTACTCCTGTCCTGAAAGATATTAATTTCAAGATAGAAAGAGGACAGTTGTTGGCGGTTGCTGGATCCACTGGAGCAGGCAAG
以下摘录部分8号内含子(小写字母)与完整9号外显子(大写字母)的序列:
ttaaaattcatatataagatgtagcacaatgagagtataaagtagatgtaataatgcattaatgctattctgattctataatatgtttttgctctcttttataaatagGATTTCTTACAAAAGCAAGAATATAAGACATTGGAATATAACTTAACGACTACAGAAGTAGTGATGGAGAATGTAACAGCCTTCTGGGAGGAG
所以,我就很疑惑,为什么那么多文献和基因检测报告把TG[m]T[n]重复都报在8号内含子,而不是9号内含子?
最后编辑于 2019-07-30 · 浏览 2050