|Application:||Population genetic analysis|
|Number of samples:||92|
|Release date:||Apr 19 2017|
|Last update date:||Nov 16 2017|
|Diseases:||Cleft Lip, Cleft Palate, Nervous System Malformations|
|Dataset link||MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach [SNP array]|
In order to understand the genetic basis of NSCL/P susceptibility, we searched for genetic variants with regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle, OOM) of affected individuals. From OOM samples, which are frequently discarded during corrective surgeries that patients with orofacial clefts routinely undergo, we derived mesenchymal stem cells (OOMMSC), and correlated the individual genetic differences with gene expression. We obtained OOM samples from 43 NSCL/P-affected and four normal individuals, and established OOMMSC primary cultures according to previously published protocol. DNA samples extracted from OOMMSC cell cultures were genotyped with the GeneChip Human Mapping 250K Nsp/250K Sty Arrays according to the manufactures’ protocol (Affymetrix, USA).