Dataset features


Application: Population genetic analysis
Number of samples: 92
Release date: Apr 19 2017
Last update date: Nov 16 2017
Access: Public
Diseases: Cleft Lip, Cleft Palate, Nervous System Malformations
Genes: NHLH1, MYC
Mutations: rs1063588
Dataset link MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach [SNP array]

Experimental Protocol

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).