Studies On Susceptibility Loci Of Two Types Of Neuropsychiatric Genetic Disorders

Pure grand mal epilepsy (PGME) is a common subtype of idiopathicgeneralized epilepsy (IGE) with an unclear mode of inheritance. Several studieswith the multiple families have provided evidence for the disorder to be linkedto chromosome 8q24 and 8p. In this work, we performed an autosomal-widescan linkage analysis using microsatellite markers in a large Chinese family withPGME and found 7 markers with Likelihood of odds (LOD) scores 1.0 ( =0)in chromosome 11q22.1-23.3. The highest LOD score for two-point andmulti-point linkage analysis are 1.99 ( =0) at marker D11S4159 and 2.18between markers D11S1782 and D11S3178, respectively, which reached thelevel of a suggested positive linkage LOD score (Z 1.9), under an autosomaldominant manner of inheritance with a penetrance of 65% but no significantpositive LOD score (Z 3.3) was found after high density of microsatellitemarkers used in the regions. Obviously, our data do not support the linkage ofthe disease to chromosome 8q24 and 8p but implicate that chromosome11q22.1-23.3 may be a new locus linked to PGME, which indicates theexistence of genetic heterogeneity in the disorder. Schizophrenia (SCZ) is common and heterogeneous psychiatric disorder.Many loci or candidate genes have been reported to be associated with thesusceptibility to schizophrenia, but so far no single causative gene has beensuccessfully identified. In this work, we focused on the T-complex protein 1 3论文摘要(TCP1) gene, which is a highly conserved with an important role in thecyto-skeletal maintenance and in the neurotransmitter trafficking. In examiningthe association between schizophrenia and two common single nucleotidepolymorphisms (SNPs) (rs4832 and rs15982) of TCP1 using case-controlsamples. Association between the polymorphisms of TCP1 and schizophreniawere examined in 380 Chinese Han schizophrenia individuals and 322 ChineseHan control subjects with different statistical methods. We found significantdifference of rs15982 allele distributions (p=0.00023) and haplotype frequenciesfrom rs4832 to rs15982 (p=0.000002) between case and control groups; and thefrequency of CT and CC genotypes with p=0.011 and p=0.00017, respectively,at rs15982 due to the C allele associated with risk increase in schizophrenia. Ourdata support TCP1 probably plays a significant role in the pathogenesis ofschizophrenia and provide justification for future studies to investigate the roleof this gene in schizophrenic disorder.