Taudien Stefan, Huse Klaus, Groth Marco, Platzer Matthias
Leibniz Institute for Age Research - Fritz Lipmann Institute, Beutenbergstr, 11, D-07745 Jena, Germany.
BMC Res Notes. 2014 Feb 19;7:93. doi: 10.1186/1756-0500-7-93.
Copy number variation (CNV) in the range from 2 to 12 per diploid genome is an outstanding feature of the beta-defensin gene (DEFB) cluster on human chromosome 8p23.1 numerously demonstrated by different methods. So far, CNV was proven for a 115 kb region between DEFB4 and 21 kb proximal of DEFB107 but the borders for the entire CNV repeat unit are still unknown. Our study aimed to narrow down the distal border of the DEFB cluster.
We established tests for length polymorphisms based on amplification and capillary electrophoresis with laser-induced fluorescence (CE-LIF) analysis of seven insertion/deletion (indel) containing regions spread over the entire cluster. The tests were carried out with 25 genomic DNAs with different previously determined cluster copy numbers. CNV was demonstrated for six indels between ~1 kb distal of DEFB108P and 10 kb proximal of DEFB107. In contrast, the most distal indel is not affected by CNV.
Our analysis fixes the minimal length of proven CNV to 157 kb including DEFB108P but excluding DEFB109P. The distal border between CNV and non-CNV part of the DEF cluster is located in the 59 kb interval chr8:7,171,082-7,230,128.
每个二倍体基因组中2至12个拷贝数变异（CNV）是人类8号染色体p23.1上β-防御素基因（DEFB）簇的一个显著特征，已通过不同方法多次证实。到目前为止，已证实DEFB4与DEFB107近端21 kb之间的115 kb区域存在CNV，但整个CNV重复单元的边界仍不清楚。我们的研究旨在缩小DEFB簇的远端边界。
我们基于扩增和毛细管电泳以及激光诱导荧光（CE-LIF）分析，对分布在整个簇中的七个包含插入/缺失（indel）的区域建立了长度多态性检测方法。使用25个具有不同先前确定的簇拷贝数的基因组DNA进行检测。在DEFB108P远端约1 kb至DEFB107近端10 kb之间的六个indel中证实了CNV。相比之下，最远端的indel不受CNV影响。
我们的分析确定了已证实的CNV的最小长度为157 kb，包括DEFB108P但不包括DEFB109P。DEF簇的CNV和非CNV部分之间的远端边界位于59 kb区间chr8:7,171,082 - 7,230,128内。
