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散发性大肠癌APEX基因两个单核苷酸多态性的检测及分析

侯君,汤显斌,谭云山,刘佳

Journal of Clinical Laboratory Science（2004）

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Abstract
目的检测分析中国人散发性大肠癌APEX基因1247位点、2197位点的单核苷酸多态性(single nucleotidepolymorphism,SNP)状况,探讨其与散发性大肠癌发生的关系.方法变性梯度凝胶电泳(denaturing gradient gelelectrophoresis,DGGE)、单链构像多态性(single strand conformation polymorphism,SSCP)分别检测150例大肠癌及其周围正常粘膜DNA的APEX基因1247位点、2197位点SNP,并直接测序验证结果.结果1247位点经DGGE检测及测序证实有17例存在A→G的SNP,导致I 64V改变;经SSCP检测和测序证实2197位点有38例T→G的SNP,并导致D148E改变.结论APEX基因SNP分布可能具有明显的种族差异,1247A→G SNP可能与中国人大肠癌发生和恶性程度相关.
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Key words
single nucleotide polymorphism,sporadic colorectal cancer,apex gene,colorectal cancer
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