中国湖南家族性和早发性乳腺癌患者PTEN和NBS1基因突变检测
发布时间：2018-09-17 19:48
【摘要】：目的:探讨中国湖南人群家族性和早发性乳腺癌患者磷酸酶张力蛋白同源物基因(phosphatase and tensin homolog,PTEN)和Nijmegen断裂综合征1(Nijmegen breakage syndrome 1,NBS1)基因的突变特点及潜在意义。方法:纳入131例家族性和早发性乳腺癌患者,采用变性高效液相色谱法(denaturing high performance liquid chromatography,DHPLC)对PTEN基因所有外显子以及NBS1基因外显子5和外显子6的突变位点进行筛查,然后采用DNA直接测序证实。结果:在131例患者中,有2例发生PTEN基因插入突变IVS4+109ins TCTTA,其突变频率为1.15%;首次发现PTEN基因的2个突变225 AC(h r 160 Pro)与IVS5+13TC,另一个已报道的错义突变为rs121909229 GA(Arg 130 Gln)。在NBS1基因上发现3个突变,其中IVS6+43AG与IVS6+127AG为首次发现,另一个已报道的同义突变为rs1805794GC(Glu 185 Gln)。结论:新发现的PTEN和NBS1突变可能是中国湖南人群家族性和早发性乳腺癌的特有突变位点。
[Abstract]:Objective: to investigate the mutation characteristics and potential significance of (phosphatase and tensin homolog,PTEN) and 1 (Nijmegen breakage syndrome 1 / NBS1) gene in familial and early onset breast cancer patients in Hunan, China. Methods: in 131 patients with familial and early onset breast cancer, all exons of PTEN gene and mutation sites of exon 5 and exon 6 of NBS1 gene were screened by denaturing high performance liquid chromatography (denaturing high performance liquid chromatography,DHPLC). DNA sequencing was used to confirm the results. Results: of the 131 patients, 2 had PTEN gene insertion mutation IVS4 109ins TCTTA, with a mutation frequency of 1.15.The two mutations of PTEN gene 225 AC (h r 160 Pro) and IVS5 13TC were first found, and the other missense mutation reported was rs121909229 GA (Arg 130 Gln). Three mutations were found in the NBS1 gene, among which IVS6 43AG and IVS6 127AG were first identified. Another synonymous mutation was reported as rs1805794GC (Glu 185 Gln). Conclusion: the newly discovered mutations of PTEN and NBS1 may be the specific mutation loci of familial and early onset breast cancer in Hunan population of China.
【作者单位】： 中南大学湘雅医院乳腺科;
【基金】：国家自然科学基金(81001179) 湖南省自然科学基金(12JJ3079)~~
【分类号】：R737.9
，
本文编号：2246910
[Abstract]:Objective: to investigate the mutation characteristics and potential significance of (phosphatase and tensin homolog,PTEN) and 1 (Nijmegen breakage syndrome 1 / NBS1) gene in familial and early onset breast cancer patients in Hunan, China. Methods: in 131 patients with familial and early onset breast cancer, all exons of PTEN gene and mutation sites of exon 5 and exon 6 of NBS1 gene were screened by denaturing high performance liquid chromatography (denaturing high performance liquid chromatography,DHPLC). DNA sequencing was used to confirm the results. Results: of the 131 patients, 2 had PTEN gene insertion mutation IVS4 109ins TCTTA, with a mutation frequency of 1.15.The two mutations of PTEN gene 225 AC (h r 160 Pro) and IVS5 13TC were first found, and the other missense mutation reported was rs121909229 GA (Arg 130 Gln). Three mutations were found in the NBS1 gene, among which IVS6 43AG and IVS6 127AG were first identified. Another synonymous mutation was reported as rs1805794GC (Glu 185 Gln). Conclusion: the newly discovered mutations of PTEN and NBS1 may be the specific mutation loci of familial and early onset breast cancer in Hunan population of China.
【作者单位】： 中南大学湘雅医院乳腺科;
【基金】：国家自然科学基金(81001179) 湖南省自然科学基金(12JJ3079)~~
【分类号】：R737.9
，
本文编号：2246910
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