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Associative Analysis Between The Polymorphism Of Oligophrenin-1 With Children's Mental Retardation And General Ability (g) In QinBa Mountain

Posted on:2006-12-14Degree:MasterType:Thesis
Country:ChinaCandidate:L J ZhangFull Text:PDF
GTID:2144360155975742Subject:Zoology
Abstract/Summary:PDF Full Text Request
It is known that intelligence have associated with inheritance tightly, the studies in the genetics of cognition will impel us to reveal the mystery of cognitive processes.Oligophrenin-1,a gene encodes a Rho-GTPase-activating protein(RhoGAP),is involved in X-linked mental retardation.and act to modulate RhoGTPase signaling pathways, mutations in oligophrenin-1 causes nonspecific X-linked mental retardation(MRX).In order to recognize the relation further between gene and mental retardation or intelligence, we performed a case-control association study using three common SNPs in the gene, rs12838002, rs5918811and rs492933. By the technology of single strand conformation polymorphism and allele-specific PCR,we find out two of SNPs(rsl2838002, rs5918811) which located in the exon have not polymorphisms, and have not to go step further. rs492933 is located in the 5'-UTRs,by the method of PCR-RFLP, its Average allele frequency is 0.83 (c) and 0.17(t) .the associative analysis between the polymorphism of rs492933 and children's mental retardation showed,for famale sample ,there is no significant association between control group allele frequencies and mental retardation group allele frequencies,and there are similar result between control group and border group.And then the associative analysis between the polymorphism of rs492933 and children's intelligence showed, there is no reliable significant association to be find between the distribution of genotype frequencies and the level of intelligence.We conclude that allelic variation in the rs492933 do not affect the level of intelligence directly,and the site is a natural variation(DNA polymorphisms).
Keywords/Search Tags:Oligophrenin-1 gene, SNP, mental retardation, intelligence, associative analysis
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