美国医学遗传学会对基因芯片拷贝数变异结果解读指南.docx

Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown, Fabiola Quintero-Rivera, Sarah T. South, A Working Groupof the American College of Medical Genetｉｃｓ（ＡＣＭＧ）Laboratory Quality Assurance Committee吴畏，刘嘉茵△ 译【摘 要】 全基因组芯片已被推荐作为分析智力障碍、孤独症、多发性出生缺陷病因的首要筛查手段，通过芯片检查发现了人类基因组中大量的拷贝数变异（copy number variation，CNV），这些变异中既有 正常个体的多态性，也有新发的致病性变异。为帮助临床实验室对芯片结果的解读保持一致性，美国医学 遗传学会制定了此有关CNV的解读指南。该指南主要应用于产后的分子遗传诊断中。【关键词】 CNV；拷贝数变异；芯片；比较基因组杂交芯片；全基因组芯片American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting ofPostnatal Constitutional Copy Number Variants Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown, Fabiola Quintero -Rivera, Sarah T. South, A Working Group of the American College of Medical Genetics（ACMG) Laboratory Quality Assurance Committee. Fullerton Genetics Center, Mission Health System, Asheville, North Carolina（Hutton M. Kearney）; Department of Laboratory Medicine and Pathology, Mayo Clinic College ofMedicine, Rochester, Minnesota （Erik C. Thorland）; Department of Pathology, Brigham and Women′s Hospitaland Harvard Medical School, Boston, Massachusetts （Kerry K. Brown）; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, California （Fabiola Quintero-Rivera）; ARUP Laboratories, Departments of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah（Sarah T. South）WU Wei，LIU Jia-yin，translators. State Key Laboratory of Reproductive Medicine，Nanjing Medical University，Center of Reproductive Medcine，the First Affiliated Hospital，Nanjing 210029，ChinaCorresponding author：LIU Jia-yin，E-mail：mailto:jyliu_nj@126.comjyliu_nj@126.com【Abstract】 Genomic microarrays used to assess DNA copy number are now recommended as first -tier tests for the postnatal evaluation of individuals with intellectual disability，autism spectrum disorders，and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of w