کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6827011 | 548133 | 2012 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب رفتاری
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چکیده انگلیسی
Schizophrenia is a complex mental disorder with high degree of genetic influence in its etiology. Several recent studies revealed that copy number variations (CNVs) of genomic DNA contributed significantly to the genetic architecture of sporadic schizophrenia. This study aimed to investigate whether CNVs also contribute to the familial forms of schizophrenia. Using array-based comparative genomic hybridization technology, we searched for pathogenic CNV associated with schizophrenia in a sample of 60 index cases from multiplex schizophrenia families. We detected three inherited CNVs that were associated with schizophrenia in three families, including a microdeletion of ~Â 4.4Â Mb at chromosome 6q12-q13, a microduplication of ~Â 1Â Mb at chromosome 18q12.3, and an interstitial duplication of ~Â 5Â Mb at chromosome 15q11.2-q13.1. Our data indicate that CNVs contribute to the genetic underpinnings of the familial forms of schizophrenia as well as of the sporadic form. As 15q11-13 duplication is a well-known recurrent CNV associated with autism in the literature, the detection of the 15q11.2-q13.1 duplication in our schizophrenia patients provides additional support to other studies reporting that schizophrenia is part of the clinical spectrum of 15q11-q13 duplication syndrome.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Schizophrenia Research - Volume 139, Issues 1â3, August 2012, Pages 229-236
Journal: Schizophrenia Research - Volume 139, Issues 1â3, August 2012, Pages 229-236
نویسندگان
Hsiao-Mei Liao, Yu-Lin Chao, Ai-Ling Huang, Min-Chih Cheng, Yann-Jang Chen, Kuei-Fang Lee, Jye-Siung Fang, Chih-Hao Hsu, Chia-Hsiang Chen,