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《美国医学遗传学会对基因芯片拷贝数变异结果解读指南》由会员上传分享，免费在线阅读，更多相关内容在工程资料-天天文库。
1、HuttonM.Kearney,ErikC.Thorland,KerryK.Brown,FabiolaQuintero-Rivera,SarahT.South,AWorkingGroupoftheAmericanCollegeofMedicalGenetｉｃｓ（ＡＣＭＧ）LaboratoryQualityAssuranceCommittee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（copyn
2、umbervariation，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AmericanCollegeofMedicalGeneticsStandardsandGuidelinesforInterpretationandReportingofPostnatalConstitutiona
3、lCopyNumberVariantsHuttonM.Kearney,ErikC.Thorland,KerryK.Brown,FabiolaQuintero-Rivera,SarahT.South,AWorkingGroupoftheAmericanCollegeofMedicalGenetics（ACMG)LaboratoryQualityAssuranceCommittee.FullertonGeneticsCenter,MissionHealthSystem,Asheville,NorthCa
4、rolina（HuttonM.Kearney）;DepartmentofLaboratoryMedicineandPathology,MayoClinicCollegeofMedicine,Rochester,Minnesota（ErikC.Thorland）;DepartmentofPathology,BrighamandWomen′sHospitalandHarvardMedicalSchool,Boston,Massachusetts（KerryK.Brown）;DepartmentofPat
5、hologyandLaboratoryMedicine,DavidGeffenSchoolofMedicineatUniversityofCalifornia,LosAngeles,California（FabiolaQuintero-Rivera）;ARUPLaboratories,DepartmentsofPediatricsandPathology,UniversityofUtah,SaltLakeCity,Utah（SarahT.South）WUWei，LIUJia-yin，translat
6、ors.StateKeyLaboratoryofReproductiveMedicine，NanjingMedicalUniversity，CenterofReproductiveMedcine，theFirstAffiliatedHospital，Nanjing210029，ChinaCorrespondingauthor：LIUJia-yin，E-mail：jyliu_nj@126.com【Abstract】GenomicmicroarraysusedtoassessDNAcopynumbera
7、renowrecommendedasfirst-tiertestsforthepostnatalevaluationofindividualswithintellectualdisability，autismspectrumdisorders，and/ormultiplecongenitalanomalies.Applicationofthistechnologyhasresultedinthediscoveryofwidespreadcopynumbervariationinthehumangen
8、ome，bothpolymorphicvariationinhealthyindividualsandnovelpathogeniccopynumberimbalances.Toassistclinicallaboratoriesintheevaluationofcopynumbervariantsandtopromoteconsistencyininterpretationandreportingofgenomicmicroarrayresults，theAmeri
