Zhongshan Daxue xuebao. Yixue kexue ban, 2011 【目的】研究EXT1与EXT2基因在我国南方正常人及致病性突变已明确的遗传性多发性骨软骨瘤病人中的多态性。【方法】 选取50例中国南方健康汉族个体及13例致病突变已明确的遗传性多发性骨软骨瘤病人，提取基因组DNA，对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序。 鉴定基因内的遗传变异，并将结果和国际数据库中的数据进行对比。【结果】 在所有研究对象中共发现15个不同的EXT1基因的单核苷酸多态性(SNPs)：3个在编码区，为同义突变，11个在内含子区，1个在3 ...
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