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Studies On The Genes Associated With Schizophrenia Of Chromosome 6q23-26

Posted on:2005-11-13Degree:DoctorType:Dissertation
Country:ChinaCandidate:Y J GuoFull Text:PDF
GTID:1104360125950076Subject:Radiation Medicine
Abstract/Summary:PDF Full Text Request
The aim of the Human Genome Project (HGP) is to identify thelocations of all genes on genomic DNA of all chromosomes which consistof 3×109 pairs of ribonucleotide, interpret all genomic information ofhuman beings, clarify the corresponding structure and function of each geneand position the humans' self-cognition on the molecular level. Its aim tellsus that HGP is not a simple and mere data collection. Instead, it needs afine and ordered dissection on the whole genome to draw various graphs,to develop and expand the technological approaches to gene diagnosis andpositional cloning and to perceive the expressing procedure and biologicalfunctions of all proteins which regulate life activities expressed by thegenome. The achievement of Human Genome Project may settle a newstarting point for the follow-up studies on human genome, and provide thebirth of morbid genome with a brand new and reliable theoretical background.Morbid genomics, together with pharmacogenomics, proteomics andenvironmental genomics have become to be newly rising disciplines in thepostgenome era. The research objective of morbid genomics is to detect allgenes causing diseases, and categorize morbid genes and their products inorder to disclose human beings' pathogenesis. About 6,000 types ofmonogenic disorders and various kinds of polygenic diseases can affact ourhuman beings, and these disease-related genes are regarded as one importantcomponent of human's gene structure. HGP-driven morbid genomics hasunderwent many developing phases from "positional cloning" to "positioningcandidate genes", from monogenic disorders to polygenic diseases, from 113studies on genes to studies on interaction of genes and environment.Complicated polygenic diseases cover a wide range of diseases such ascancer, cardiovascular diseases, metabolic diseases, immunological diseases,neurosis and mental disorders. Through the comparison of the normal genesequencing and morbid gene sequencing, genes related to a certain diseasecan be mapped, and a theoretical basis for the prevention, diagnosis andtreatment of polygenic diseases may be found at the molecular level. Schizophrenia is one of the complicated polygenic diseases severelyjeopardizing human's health, with its prevalence being 1% in terms of theworld population. Since the social burden caused by this disease has toppedamong all, one of the heated studying issues in the international academicfield has fallen on the investigation of the cause and pathogenesis ofschizophrenia and seeking feasible prevention and treatment measures. Thepathogenesis of schizophrenia has not been clarified yet so far, however, mostscholars believe that the disease may result from the joint impacts of geneticfactors and environmental factors. They also hold the idea that the geneticpattern of schizophrenia is rather complex, featured by genetic heterogeneityas well. According to the outcomes from the studies on genome scanning andpredisposing genes mapping, the predisposing genes of schizophrenia may liein the following regions -- 1q21-22, 5q22-23, 6p24-21, 8p22-21, 13q14-33and 22q11-12。Among them, the short arm of chromosome 6 might be thesignificant suspected region for schizophrenia. Many scholars' repeatableexperiments have shown evidences to this standpoint. Nonetheless, thereports about the studies on the long arm of chromosome 6 are rarely seen. The study in this paper took 6q23-26 as the candidate area ofschizophrenia suspected genes, focusing on the suspected genes localizingresearch on the ground of 1 EST and 4 SNPs. The detailed method was todefine the 153 trios composed of a schizophrenia patient and their healthyparents from Han nationality in China as research targets, adopt the PCR–RFLP means to test the individual genotype, conduct the linkagedisequilibrium analysis on the family basis and build up the SNPs linkagedisequilibrium graphs. Genotyping data were...
Keywords/Search Tags:schizophrenia, single nucleotide polymorphism, linkage disequilibrium, susceptibility gene, 6q23-26
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