Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

ABSTRACT:

Background

Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for array design. The average resolution of analysis for the array is approximately 12 kb per measurement point with an increased average resolution of 6.4 kb for the NF1 gene.

Methods

We performed a comprehensive array-CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. The typical deletion was identified in 26 cases,

SUBMITTER: Mantripragada KK 

PROVIDER: S-EPMC2564500 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature