Author/Authors :
Kesim, Fatma Yesim Istanbul Universitesi - Deneysel Tip Arastirma Enstitiisu - Genetik Anabilim Dali, Turkey , Tuncer, Feyza Nur Istanbul Universitesi - Deneysel Tip Ara§tirma Enstitiisu - Genetik Anabilim Dali, Turkey , Yticesan, Emrah Istanbul Universitesi - Deneysel Tip Ara§tirma Enstitiisu - Genetik Anabilim Dali, Turkey , Ozdemir, Ozkan Istanbul Universitesi - Deneysel Tip Ara§tirma Enstitiisu - Genetik Anabilim Dali, Turkey , Calik, Mustafa Harran Universitesi - Tip Fakiiltesi - Cocuk Norolojisi Bbliimti, Turkey , Ozbek, Ugur Istanbul Universitesi - Deneysel Tip Ara§tirma Enstitiisu - Genetik Anabilim Dali, Turkey , Ugur, Sibel Aylin Istanbul Universitesi - Deneysel Tip Ara§tirma Enstitiisu - Genetik Anabilim Dali, Turkey
Abstract :
Whole genome SNP (Single Nucleotide Polymorphism, SNP) genotyping is a well-established tool for linkage studies and association analysis. This tool offers further advance in detecting copy number variations (CNVs), since allele frequencies and signal intensities can be analyzed simultaneously using well-established algorithms with graphical outputs. In this study, SNP based CNV analysis has been performed for a consanguineous pedigree afflicted with a recessive form of progressive epilepsy. 6 affected, 4 unaffected sibs and their unaffected parents have been genotyped using Illumina Human HumanCytoSNP-12 BeadChip (300K). Interestingly, in CNV analysis we have revealed trisomy of chromosome 21 who was reported to be unaffected for the neurological condition. A haplotype based strategy using genotyping data from parents and the trisomic child revealed maternal inheritance of the extra chromosomal copy. Herein, we present an effective novel approach for parent of origin detection in trisomies.
NaturalLanguageKeyword :
Whole genome SNP genotyping , Trisomy 21 , CNV analysis , Parent of Origin
