Molecular methods for genotyping complex copy number polymorphisms

被引：37

作者：

Cantsilieris, Stuart ^{[1
,2
]}

Baird, Paul N. ^{[1
]}

White, Stefan J. ^{[2
]}

机构：

[1] Univ Melbourne, Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, Melbourne, Vic, Australia

[2] Monash Univ, Monash Inst Med Res, Ctr Reprod & Dev, Melbourne, Vic 3004, Australia

来源：

GENOMICS | 2013年 / 101卷 / 02期

基金：

英国医学研究理事会;

关键词：

Copy number variation; Next generation sequencing; Paralogue ratio test; Multiplex ligation-dependent probe amplification; Quantitative PCR; Southern blotting; Multiplex amplifiable probe hybridization; FIELD GEL-ELECTROPHORESIS; STRUCTURAL VARIATION; CROHNS-DISEASE; HUMAN GENOME; ACCURACY; GENES; LOCUS; DNA; HYBRIDIZATION; ASSOCIATION;

D O I：

10.1016/j.ygeno.2012.10.004

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Genome structural variation shows remarkable complexity with respect to copy number, sequence content and distribution. While the discovery of copy number polymorphisms (CNP) has increased exponentially in recent years, the transition from discovery to genotyping has proved challenging, particularly for CNPs embedded in complex regions of the genome. CNPs that are collectively common in the population and possess a dynamic range of copy numbers have proved the most difficult to genotype in association studies. This is in some part due to technical limitations of genotyping assays and the sequence properties of the genomic region being analyzed. Here we describe in detail the basis of a number of molecular techniques used to genotype complex CNPs, compare and contrast these approaches for determination of multi-allelic copy number, and discuss the potential application of these techniques in genetic studies. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：86 / 93

页数：8

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