The Association Study Between GPD2 Gene And Mental Retardation In QinBa Mountain Area

Mental retardation (Mental retardation MR) also known as mental sluggish, mental deficien-cy, occurred in the period of growth and development of people, it is a group of disease which characterize by spiritual, mental retardation or hypoplasia. The prevalence of MR in the population is aboutl-3%, the main clinical manifestations of patients include two aspects, one is general intelligence significantly lower than the age level, and the other is the resulting decline in social adaptability. The analysis on foster children, family and compatriots and many related study results show that genetic factors plays an important role in mental retardation. The Qinba mountain area is located in Shaanxi, Sichuan, Gansu, Hubei, Henan, it is a special area of natural and social-cultural environment in central and western china and it is also one of the main poverty-stricken areas in our country and the region of high incidence of mental retardation. In this thesis, we study the correlation between GPD2 gene and the MR of population in Qinba mountain area from the genomic level.GPD2 is one of newly discovered genes in 2009 related with non-specific mental retardation. This gene encodes the mitochondrial glycerophosphate dehydrogenase (mGPDH), Molecular and functional studies showed approximately a twofold decrease of GPD2 transcript level as well as decreased activity of the coded mGPDH protein in lymphoblastoid cell lines of the patient compared to controls. The related research suggest that functional defect of the mGPDH protein could be associated with mental retardation. That means GPD2 could be involved in mental retardation in some cases.In this study, we use 140 nuclear family formed with MR patients and their parents in southern Shaanxi Qinba Mountains as the research object. According to the functional site, functional domain and control region, six SNPs in the region of GPD2 were selected as the genetic markers. Genotypes of six SNPs of GPD2 were acquired using the PCR-SSCP and other molecular genetics technology, and the association relationship between the GPD2 genes and Mental retardation was analyzed according to the. Family-based transmission disequilibrium test and haplotype relative risk analysis using EXCEL2007, HAPLOVIEW4.1 and UNPHASE3.13 statistical softwares. The research result shows that the rs298281 locus near FAD binding domain (P=0.007) was significantly correlated with MR in Qinba mountains even after Bonferroni correction, our results demostrate that there may have some abnormal mutation in or nearby the FAD binding domain which could lead to MR.