Association Study Between FGD1 Gene And Mental Retardation In The Qinba Mountains-family-based Association Analysis

Mental retardation is a common mental disorder, characterized by significant limitation in intellectual function and adaptive behavior that arise during childhood.Various factors can contribute to this complicated disease, coupled with high prevalence rate, it has brought mayor burden to both families and society. Till now, there is not effective way to heal this disease, many studies strive to find the reasons that result mental retardation. QinBa Mountain is located at the junction of the five provinces. Special natural, geographical and Cultural environment make children tend to suffer mental retardation. Various pedigree Information and materials collected from this population provide convenience to researcher to Study monogenic and polygenic inheritance disorder.FGDl gene encode a guanine nucleotide exchange factor(GEF) for cdc42,GEF catalysis cdc42 bind to GTP, in this way, synapse formation and plastic were affected and various research prove this idea. Though one of syndromic forms of MR results from mutation of FGDl gene,some no-specific mental retardation patients also results from mutation of FGDl gene, therefore this gene both belong specific MR gene and no-specific MR gene. Based on the particularity of this sample and previous work, we study whether the Polymorphism of FGDl gene is associated with MR patients in Qinba Mountain.Nuclear families are composed of MR children and his or her parents.According to the National center for biology database, we selected five SNPs loci in FGDl gene:Rs2230265, Rs7881608, Rs2239809, Rs6614244, Rs2284710. Hubble Weinberg equilibrium in line with the premise, five SNP loci do transmission disequilibrium test, the results showed that five SNP loci and the Qin ba mountain sickness was no significant association. According to linkage information, five SNPs compose the haplotype, then do block analysis, results are negative, so this preliminary study indicate that FGDl Polymorphism were not significantly associated with MR in Qinba Mountain.