Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH
- 作者：Cecilia de Bustos ; Teresita Dí ; az de Stå ; hl ; Arkadiusz Piotrowski ; Kiran K. Mantripragada ; Patrick G. Buckley ; Eva Darai ; Caisa M. Hansson ; Gintautas Grigelionis ; Uwe Menzel and Jan P. Dumansk
- 关键词：Comparative genomic hybridization ; Segmental duplications ; Human chromosome 22 ; Copy number polymorphism ; Human variation ; Ependymoma ; Neuroectodermal tumors ; Low-copy repeats ; CRYBB2 ; LRP5
- 刊名：Genomics
- 出版年：2006
- 期刊代码：170_08887543
- 类别：bio
- 出版时间：August 2006
- 卷：88
- 期：2
- 页码：152-162
- 文件大小：605 K
摘要
A previously detected copy number polymorphism (Ep CNP) in patients affected with neuroectodermal tumors led us to investigate its frequency and length in the normal population. For this purpose, a program called Sequence Allocator was developed and applied for the construction of an array that consisted of unique and duplicated fragments, allowing the assessment of copy number variation within regions of segmental duplications. The average resolution of this array was 11 kb and we determined the size of the Ep CNP to be 290 kb. Analysis of normal controls identified 7.7 and 7.1%gains in peripheral blood and lymphoblastoid cell line (LCL) DNA, respectively, while deletions were found only in the LCL group (7.1%). This array platform allows the detection of DNA copy number variation within regions of pronounced genomic complexity, which constitutes an improvement over available technologies.