genomic landscape of a three-generation pedigree segregating affective disorder基因组的一个三代同堂的血统隔离情感障碍.pdfVIP
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genomic landscape of a three-generation pedigree segregating affective disorder基因组的一个三代同堂的血统隔离情感障碍
Genomic Landscape of a Three-Generation Pedigree
Segregating Affective Disorder
1 1 1 2 3,4
Shuzhang Yang , Kai Wang , Brittany Gregory , Wade Berrettini , Li-San Wang , Hakon
Hakonarson5,6*, Maja Bucan1,5*
1 Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, 2 Department of Psychiatry, University of Pennsylvania,
Philadelphia, Pennsylvania, United States of America, 3 Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of
America, 4 Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, 5 Center for Applied Genomics, The Children’s
Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America, 6 Division of Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania,
United States of America
Abstract
Bipolar disorder (BPD) is a common psychiatric illness with a complex mode of inheritance. Besides traditional linkage and
association studies, which require large sample sizes, analysis of common and rare chromosomal copy number variants
(CNVs) in extended families may provide novel insights into the genetic susceptibility of complex disorders. Using the
Illumina HumanHap550 BeadChip with over 550,000 SNP markers, we genotyped 46 individuals in a three-generation Old
Order Amish pedigree with 19 affected (16 BPD and three major depression) and 27 unaffected subjects. Using the
PennCNV algorithm, we identified 50 CNV regions that ranged in size from 12 to 885 kb and encompassed at least 10 single
nucleotide polymorphisms (SNPs). Of 19 well characterized CNV
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