Copy number variation of beta-defensins and relevance to disease

被引：50
|
作者：
Hollox, E. J. [1 ]
机构：
[1] Univ Leicester, Dept Genet, Leicester LE1 6RN, Leics, England
来源：
CYTOGENETIC AND GENOME RESEARCH | 2008年 / 123卷 / 1-4期
关键词：
D O I：
10.1159/000184702
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
Beta-defensins are multifunctional proteins that have an important role in the innate immune system. A cluster of beta-defensin genes shows common and extensive variation in copy number in humans. This copy number has been associated with differing susceptibility to Crohn's disease and psoriasis. In this review, I summarise what is currently known about copy number variation (CNV) of beta-defensins, and discuss practical considerations when studying these genes, and copy number variation in general. I also suggest future directions for research, with an emphasis on improvement of methods for accurately typing CNV. Copyright (C) 2009 S. Karger AG, Basel
引用
收藏
页码：148 / 155
页数：8
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