Genetic Structures of Copy Number Variants Revealed by Genotyping Single Sperm 英文参考文献.docVIP

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Genetic Structures of Copy Number Variants Revealed by Genotyping Single Sperm 英文参考文献.doc

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Genetic Structures of Copy Number Variants Revealed by Genotyping Single Sperm 英文参考文献

GeneticStructuresofCopyNumberVariantsRevealedby GenotypingSingleSperm MinjieLuo1,XiangfengCui1,DavidFredman2¤a,AnthonyJ.Brookes3,MarcoA.Azaro1,DanielleM. Greenawalt1,GuohongHu1,Hui-YunWang1¤b,IrinaV.Tereshchenko1,YongLin4,YueShentu5 ,Richeng Gao1,LiShen1,HonghuaLi1* 1DepartmentofMolecularGenetics,Microbiology,andImmunology/TheCancerInstituteofNewJersey,UniversityofMedicineandDentistryofNewJerseyRobertWood Johnson Medical School, Piscataway, New Jersey, United States of America, 2Bergen Center for Computational Science, University of Bergen, Bergen, Norway, 3DepartmentofGenetics,UniversityofLeicester,Leicester,UnitedKingdom,4DepartmentofBiometry,UniversityofMedicineandDentistryofNewJerseyRobertWood Johnson Medical School, Piscataway, New Jersey, United States of America, 5Department of Statistics, Rutgers University, Hill Center for the Mathematical Sciences, Piscataway,NewJersey,UnitedStatesofAmerica Abstract Background:Copynumbervariants(CNVs)occupyasignificantportionofthehumangenomeandmayhaveimportant rolesinmeioticrecombination,humangenomeevolutionandgeneexpression.Manygeneticdiseasesmaybeunderlainby CNVs.However,becauseofthepresenceoftheirmultiplecopies,variabilityincopynumbersandthediploidyofthehuman genome,detailedgeneticstructureofCNVscannotbereadilystudiedbyavailabletechniques. Methodology/Principal Findings: Single sperm samples were used as the primary subjects for the study so that CNV haplotypes in the sperm donors could be studied individually. Forty-eight CNVs characterized in a previous study were analyzed using a microarray-based high-throughput genotyping method after multiplex amplification. Seventeen single nucleotidepolymorphisms(SNPs)werealsoincludedascontrols.Twosingle-basevariants,eitherallelicorparalogous,could bediscriminatedfor allmarkers.Microarray datawereused toresolveSNPallelesandCNVhaplotypes, toquantitatively assessthenumbersandcompositionsoftheparalogoussegmentsineachCNVhaplotype. Conclusions/Significance:Thisisthefirststudyof