title: Determination of genomic breakpoints in an epileptic patient using genotyping array.
abstract: Recent advances in DNA microarray technology have enabled the identification of small alterations throughout the genome. We used standard karyotype analysis, followed by DNA microarray analysis and PCR to precisely map the chromosomal 4p deletion and determine the deletion breakpoints in the genome of an epileptic patient. The karyotype of the patient was 46,XY,del(4)(p15.2p15.3) as determined by G-banding analysis. We used a high-density oligonucleotide genotyping array to estimate the size of the deletion (4.5 Mb) and to locate the breakpoints within a 9-kb region on one side of the deletion and a 100-kb region on the other side. We amplified by PCR and sequenced the genomic region encompassing the breakpoints, and mapped the deletion to regions extending from 21648457 to 26164287 and from 26164505 to 26167493, respectively (chromosome 4 of NCBI Homo sapiens Genome Build 35.1). The deletion involves 18 genes, one of which (CCKAR) is partially deleted.
authors.affiliation: Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, Yokohama, Japan. tkojima@gsc.riken.jp
authors.forename: Toshio
authors.initials: T
authors.lastname: Kojima
authors.forename: Wakako
authors.initials: W
authors.lastname: Mukai
authors.forename: Daisuke
authors.initials: D
authors.lastname: Fuma
authors.forename: Yuto
authors.initials: Y
authors.lastname: Ueda
authors.forename: Motohiro
authors.initials: M
authors.lastname: Okada
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Sakaki
authors.forename: Sunao
authors.initials: S
authors.lastname: Kaneko
mesh_terms: D019457:Chromosome Breakage / Q000235:genetics*; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D023281:Genomics; D005838:Genotype; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis