title: Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH.
abstract: A previously detected copy number polymorphism (Ep CNP) in patients affected with neuroectodermal tumors led us to investigate its frequency and length in the normal population. For this purpose, a program called Sequence Allocator was developed and applied for the construction of an array that consisted of unique and duplicated fragments, allowing the assessment of copy number variation within regions of segmental duplications. The average resolution of this array was 11 kb and we determined the size of the Ep CNP to be 290 kb. Analysis of normal controls identified 7.7 and 7.1% gains in peripheral blood and lymphoblastoid cell line (LCL) DNA, respectively, while deletions were found only in the LCL group (7.1%). This array platform allows the detection of DNA copy number variation within regions of pronounced genomic complexity, which constitutes an improvement over available technologies.
authors.affiliation: Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden. cecilia.bustos@genpat.uu.se
authors.forename: Cecilia
authors.initials: C
authors.lastname: de Bustos
authors.forename: Teresita
authors.initials: T
authors.lastname: Díaz de Ståhl
authors.forename: Arkadiusz
authors.initials: A
authors.lastname: Piotrowski
authors.forename: Kiran K
authors.initials: KK
authors.lastname: Mantripragada
authors.forename: Patrick G
authors.initials: PG
authors.lastname: Buckley
authors.forename: Eva
authors.initials: E
authors.lastname: Darai
authors.forename: Caisa M
authors.initials: CM
authors.lastname: Hansson
authors.forename: Gintautas
authors.initials: G
authors.lastname: Grigelionis
authors.forename: Uwe
authors.initials: U
authors.lastname: Menzel
authors.forename: Jan P
authors.initials: JP
authors.lastname: Dumanski
mesh_terms: D002460:Cell Line; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000378:metabolism; D019143:Evolution, Molecular; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D020869:Gene Expression Profiling; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA