کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8626298 1568517 2018 41 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical significance of germline copy number variation in susceptibility of human diseases
ترجمه فارسی عنوان
اهمیت بالینی تغییرات تعداد نسخه ژرمینال در حساسیت بیماری های انسانی
کلمات کلیدی
تنوع شماره کپی، حساسیت، خطر، سرطان، اختلالات عصب روانشناختی،
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شناسی تکاملی
چکیده انگلیسی
Germline copy number variation (CNV) is considered to be an important form of human genetic polymorphisms. Previous studies have identified amounts of CNVs in human genome by advanced technologies, such as comparative genomic hybridization, single nucleotide genotyping, and high-throughput sequencing. CNV is speculated to be derived from multiple mechanisms, such as nonallelic homologous recombination (NAHR) and nonhomologous end-joining (NHEJ). CNVs cover a much larger genome scale than single nucleotide polymorphisms (SNPs), and may alter gene expression levels by means of gene dosage, gene fusion, gene disruption, and long-range regulation effects, thus affecting individual phenotypes and playing crucial roles in human pathogenesis. The number of studies linking CNVs with common complex diseases has increased dramatically in recent years. Here, we provide a comprehensive review of the current understanding of germline CNVs, and summarize the association of germline CNVs with the susceptibility to a wide variety of human diseases that were identified in recent years. We also propose potential issues that should be addressed in future studies.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Genetics and Genomics - Volume 45, Issue 1, 20 January 2018, Pages 3-12
نویسندگان
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