Identification Of Susceptibility Gene Loci In Children With Perthes Disease Through High-throughput Gene Chip

Objective Using the gene chip technology in studying the structure andfunction of cells of patients with Perthes disease related genes to findout the gene susceptibility locus of the perthes disease and to explorethe pathogenesis of Children aseptic necrosis of the femoral headMethods To obtain genetic variation region and identify disease genes,wehave been collecting the venous blood of17patients with the disease andanalyzing the samples with Microarray methods. Through Gene ontologyanalysis to get the related genes function and identify a high correlationof the target genes.Results1、In the total of17cases of blood samples,12specimens comply withthe requirements of further testing, including9males, with an averageage of7.6years and3females, mean age5.9years2、 In12blood samples,we found2specific regions of the loss ofheterozygosity(LOH),which are located on chromosome1p32.3andchromosome16q22.1.The first LOH has13disease genes and the latterregion has47disease genes.3、In those12blood samples24copy number variations have been found,including21loss regions andthree gain regions, containing a total of36disease genes. Conclusion1、High-throughput Gene chip can filter out the series of mutant genes.2、Through gene function analysis,it canbe found that most of these mutatedgenes have some relationship with cell differentiation、 growthregulation、cartilage development and coagulation function.3、Combined with previous research about the causes of the disease, themost putative disease genes are OSBPL9、SCP2、LCAT、SCAP...