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多发性骨髓瘤 白血病及淋巴瘤中全基因组关联分析计量和热点研究

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摘要 全基因组关联研究（genome-wide association study， GWAS）是利用高通量基因芯片技术，对人类全基因组范围内常见遗传变异--单核苷酸多态性（single nucleotide poly－morphism，SNP）和拷贝数变异（copy number variation，CNV）进行总体关联分析的研究方法［1］。它基于DNA是可遗传的且和临近的等位基因从上一代传递给下一代这一理论。国际人类基因组测序完成，单体型图谱工程的完成和经济高效的高通量基因分型技术的开展，使得全基因组范围内筛检与疾病相关的序列变异成为可能，它可以在病例和对照中比较全基因组范围内所有变异的等位基因频率，从中发现与疾病相关联的序列变异［2，3］。GWAS研究设计类型有单个阶段研究、2个阶段研究和多阶段研究设计［2］，其统计分析的基本原则是减少系统偏倚和加大研究强度，譬如进行强有力的SNP设定分析。
作者 许春伟 王琳 张博 邵云 王怀涛 吴永芳 李晓兵
机构地区 军事医学科学院附属医院病理科 山西医学科学院山西大医院病理科
出处 《中国药物与临床》 CAS 2014年第12期1739-1742,共4页 Chinese Remedies & Clinics
关键词 全基因组 多发性骨髓瘤 人类基因组测序 淋巴瘤 白血病 等位基因频率 单核苷酸多态性 遗传变异
分类号 R733 [医药卫生—肿瘤]
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中国药物与临床
2014年 第12期

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