先天性小耳畸形全基因组甲基化谱的建立

Objective Screening for abnormal methylation in CpG islands and CpG sites through whole genome of congenital microtia to identify their associated genes. To discuss the relationship between abnormal methylation level of genes and the etiology of congenital microtia. Methods To collect the residual ear cartilage of 3 patients with microtia as the research object; normal ear cartilage of 3 patients without ear malformations as control. Choosing Nimblegen CpG promoter array to screen the 28226 CpG islands in the whole genome of both experimental group and control group, the genes with differential methylated CpG islands were selected. Results There were thirty-six CpG islands with differential methylated level in whole genome between experimental group and control group, in which twenty-nine CpG islands were connected with twenty-nine named genes. Conclusions The DNA methylation profile of the entire genome was initially established. The 36 abnormal methylated CpG islands, including twenty-nine named genes might, relate to the pathogenesis of the disease.