【摘要】：目的:探討中國湖南人群家族性和早發(fā)性乳腺癌患者磷酸酶張力蛋白同源物基因(phosphatase and tensin homolog,PTEN)和Nijmegen斷裂綜合征1(Nijmegen breakage syndrome 1,NBS1)基因的突變特點及潛在意義。方法:納入131例家族性和早發(fā)性乳腺癌患者,采用變性高效液相色譜法(denaturing high performance liquid chromatography,DHPLC)對PTEN基因所有外顯子以及NBS1基因外顯子5和外顯子6的突變位點進行篩查,然后采用DNA直接測序證實。結(jié)果:在131例患者中,有2例發(fā)生PTEN基因插入突變IVS4+109ins TCTTA,其突變頻率為1.15%;首次發(fā)現(xiàn)PTEN基因的2個突變225 AC(h r 160 Pro)與IVS5+13TC,另一個已報道的錯義突變?yōu)閞s121909229 GA(Arg 130 Gln)。在NBS1基因上發(fā)現(xiàn)3個突變,其中IVS6+43AG與IVS6+127AG為首次發(fā)現(xiàn),另一個已報道的同義突變?yōu)閞s1805794GC(Glu 185 Gln)。結(jié)論:新發(fā)現(xiàn)的PTEN和NBS1突變可能是中國湖南人群家族性和早發(fā)性乳腺癌的特有突變位點。
[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.
【作者單位】： 中南大學(xué)湘雅醫(yī)院乳腺科;
【基金】：國家自然科學(xué)基金(81001179) 湖南省自然科學(xué)基金(12JJ3079)~~
【分類號】：R737.9
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本文編號：2246910