IDENTIFICATION OF G-PROTEIN ALPHA-SUBUNIT MUTATIONS IN HUMAN GROWTH-HORMONE (GH)-SECRETING AND GH/PROLACTIN-SECRETING PITUITARY-TUMORS BY SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS
IDENTIFICATION OF G-PROTEIN ALPHA-SUBUNIT MUTATIONS IN HUMAN GROWTH-HORMONE (GH)-SECRETING AND GH/PROLACTIN-SECRETING PITUITARY-TUMORS BY SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS
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DOI：
10.1016/0303-7207(92)90240-7
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发表时间：
1992-09-01
影响因子：
4.1
通讯作者：
COLLU, R
中科院分区：
文献类型：
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作者：
DREWS, RT;GRAVEL, RA;COLLU, R
我们应用聚合酶链式反应和单链构象多态性分析技术检测了G(S-α)亚单位基因的激活突变，扩增了从生长激素(GH)和生长激素/催乳素(PRL)分泌的人垂体肿瘤中提取的基因组DNA。在测试的15个肿瘤中，有6个包含G(S-阿尔法)分析区域的突变。SSCP分析发现4例GH-瘤和1例GH/PRL瘤外显子8带移位，1例GH/PRL瘤外显子9带移位。扩增产物直接测序鉴定为第8外显子的R201-H、R201-S和R201-C突变，第9外显子的Q227-L突变。这些结果表明了聚合酶链式反应/单链构象多态性分析在G蛋白突变检测中的有效性，扩大了这些突变是肿瘤诱变热点的结论。
We have applied the polymerase chain reaction (PCR) and single-strand conformation polymorphism analysis (SSCP) to detect activating mutations in the G(s-alpha) subunit gene, amplifying genomic DNA extracted from growth hormone (GH)- and GH/prolactin (PRL)-secreting human pituitary tumors. Of 15 tumors tested six contained mutations in the analyzed regions of the G(s-alpha). SSCP analysis revealed band shift in exon 8 in four GH- and in one GH/PRL-secreting tumors, and in exon 9 in one GH/PRL-secreting tumor. Direct sequencing of PCR reaction products identified the mutations as R201-H, R201-S and R201-C in exon 8 and Q227-L in exon 9. These results show the efficacy of PCR/SSCP analysis in the detection of G protein mutations and extend the generalization that these sites are hot spots in tumor-inducing mutations.