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PI3KCA基因高频突变位点与子宫颈鳞癌关系的初步研究 被引量:1
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作者 彭立平 查晓 +3 位作者 张国楠 程佳 樊英 黄建鸣 《肿瘤预防与治疗》 2010年第5期367-370,共4页
目的:探讨宫颈鳞癌与PIK3CA基因高频突变点E542K、E545k和H1047R的关系。方法:随机选择50例病理确诊宫颈鳞癌组织作为实验组,患者本人的外周血作为对照组,提取其基因组DNA,用巢式-PCR方法扩增PIK3CA基因exon9和exon20基因片段并测序分... 目的:探讨宫颈鳞癌与PIK3CA基因高频突变点E542K、E545k和H1047R的关系。方法:随机选择50例病理确诊宫颈鳞癌组织作为实验组,患者本人的外周血作为对照组,提取其基因组DNA,用巢式-PCR方法扩增PIK3CA基因exon9和exon20基因片段并测序分析。结果:实验组均发现exon9 E542K位点突变,相应外周血DNA检测也发现相同突变,PI3KCA基因与定位染色体22q11.2的Cat Eye Syndrome基因片段具有高度重合现象。改变引物设计发现50例样本中E542K和E545k位点分别发现2例突变,H1047R位点未发现突变。对照组未见突变。结论:宫颈鳞癌组织中PIK3CA基因exon9(E542K和E545k)和exon20 H1047R位点在其它实体肿瘤中具有较高突变频率的PI3KCA基因,而在宫颈鳞癌中的突变率较小。 展开更多
关键词 PIK3CA 宫颈癌 基因突变 exon9 exon20 CAT Eye SYNDROME
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Novel alternative splicing of GABA receptor RDL exon 9 from Laodelphax striatellus modulates agonist potency
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作者 Jie Jiang Li-Xin Huang +4 位作者 Feng Chen Cheng-Wang Sheng Qiu-Tang Huang Zhao-Jun Han Chun-Qing Zhao 《Insect Science》 SCIE CAS CSCD 2021年第3期757-768,共12页
The resistance to dieldrin gene(RDL)encodes the primary subunit of the insect ionotropic y-aminobutyric acid(GABA)receptor(GABAR),which is the target of phenylpyrazole and isoxazoline insecticides.The splice variants ... The resistance to dieldrin gene(RDL)encodes the primary subunit of the insect ionotropic y-aminobutyric acid(GABA)receptor(GABAR),which is the target of phenylpyrazole and isoxazoline insecticides.The splice variants in exons 3 and 6 of RDL,which have been widely explored in many insects,modulate the agonist potency of the homomeric RDL GABAR and potentially play an important role in the development of insects.In the present study,four splice variants of exon 9 were identified in RDL of the small brown planthopper,Laodelphax striatellus(LsRDL),resulting in LsRDL-9sl,LsRDL-92l\LsRDL-9b,and LsRDL-9c.LsRDL-9a has one more amino acid(E,glutamic acid)compared with LsRDL-9a\and LsRDL-9b lacked two amino acids and had seven different amino acids compared with LsRDL-9c.Two-electrode voltage-clamp recording on LsRDLs expressed in Xenopus oocytes showed that alternative splicing of exon 9 has significant impact on LsRDL sensitivity to the agonists GABA and 0-alanine,whereas no significant difference was observed in the potencies of the non-competitive antagonists(NCAs)ethiprole and fluralaner on the splice variants.Our results suggest that alternative splicing of RDL exon 9 broadens functional capabilities of the GABAR in L.striatellus by influencing the action of GABA. 展开更多
关键词 alternative splicing exon 9 GABA receptor Laodelphax striatellus^RDL
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