UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family.

ABSTRACT:

Background

The primary objective of this study is to identify novel copy number variations (CNVs) associated with familial ankylosing spondylitis (AS). A customized genome-wide microarray was designed to detect CNVs and applied to a multiplex AS family with six (6) affected family members. CNVs were detected using the built-in DNA analytics aberration detection method-2 (ADM-2) algorithm. Gene enrichment analysis was performed to observe the segregation. Subsequent validation was performed using real time quantitative fluorescence polymerase reaction (QF-PCR). The frequency of copy number variation for the UGT2B17 gene was then performed on two well-defined AS cohorts. Fisher exact test was performed to quantify the association.

Results

Our family-based analysis revealed ten

SUBMITTER: Uddin M 

PROVIDER: S-EPMC3751806 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature