【摘要】 目的:开发一种低通量的基因芯片,以识别和诊断嗜铬细胞瘤基因突变。方法:将人工合成的寡核苷酸探针点样于玻片介质上,制成嗜铬细胞瘤基因突变检测芯片。此芯片包含与嗜铬细胞瘤相关的SDHB、SDHD、VHL和RET4个基因的87个突变位点,应用于35例已测序的嗜铬细胞瘤患者DNA样本以验证芯片检测的准确性。结果:该芯片的内参照结果能做到绝对阳性和绝对阴性,91%的样本芯片杂交与基因测序结果一致。35例嗜铬细胞瘤患者中,基因测序证实的29例突变样本用基因芯片技术检出26例;在6例无突变的样本中两种方法检出结果一致。结论:制作的基因芯片可准确识别嗜铬细胞瘤相关的基因突变,为筛查嗜铬细胞瘤基因突变提供一种快速的方法。更多还原

【Abstract】 Objective:To develop a microarray to detect genetic mutations associated with pheochromocytoma.Methods: Artificial oligonucleotide probes were dotted on the chip to develop a microarray to detect genetic mutations associated with pheochromocytoma.The chip included 87 mutational sites responsible for pheochromocytoma in SDHB,SDHD,VHL and RET four genes.We verified the accuracy of gene chip by analyzing 35 previously sequenced DNA samples of pheochromocytoma patients.Results: All results of the positive and negative internal standard were absolutely right.The chip hybridization results consisted with the previous sequencing results in 91% cases.In 35 pheochromocytoma patients,the gene chip confirmed the previous sequencing results in 26 out of 29 mutational samples;And results of the two methods were consistent in 6 samples without mutation.Conclusions: The gene chip could accurately identify genetic mutations related to pheochromocytoma,which could provide a quick method of screening genetic mutations in pheochromocytoma.更多还原