{"title":"自闭症及相关疾病的遗传结构","authors":"D.E. Grice , J.D. Buxbaum","doi":"10.1016/j.cnr.2006.06.004","DOIUrl":null,"url":null,"abstract":"<div><p>Epidemiological twin studies demonstrate that autism spectrum disorders<span><span> (ASDs) represent genetic disorders. Subsequent analyses indicate that the causes of ASDs include rarer single gene mutations and </span>chromosomal abnormalities, as well as ASDs caused by multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci for the ASDs, and positional and functional candidate genes have been identified that may represent susceptibility genes for the ASDs. Analysis of additional larger samples, and the use of genome-wide association and high-throughput variant detection will lead to the identification of further genes for ASDs.</span></p></div>","PeriodicalId":87465,"journal":{"name":"Clinical neuroscience research","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2006-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cnr.2006.06.004","citationCount":"4","resultStr":"{\"title\":\"The genetic architecture of autism and related disorders\",\"authors\":\"D.E. Grice , J.D. Buxbaum\",\"doi\":\"10.1016/j.cnr.2006.06.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Epidemiological twin studies demonstrate that autism spectrum disorders<span><span> (ASDs) represent genetic disorders. Subsequent analyses indicate that the causes of ASDs include rarer single gene mutations and </span>chromosomal abnormalities, as well as ASDs caused by multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci for the ASDs, and positional and functional candidate genes have been identified that may represent susceptibility genes for the ASDs. Analysis of additional larger samples, and the use of genome-wide association and high-throughput variant detection will lead to the identification of further genes for ASDs.</span></p></div>\",\"PeriodicalId\":87465,\"journal\":{\"name\":\"Clinical neuroscience research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2006-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.cnr.2006.06.004\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical neuroscience research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1566277206000132\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical neuroscience research","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1566277206000132","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
The genetic architecture of autism and related disorders
Epidemiological twin studies demonstrate that autism spectrum disorders (ASDs) represent genetic disorders. Subsequent analyses indicate that the causes of ASDs include rarer single gene mutations and chromosomal abnormalities, as well as ASDs caused by multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci for the ASDs, and positional and functional candidate genes have been identified that may represent susceptibility genes for the ASDs. Analysis of additional larger samples, and the use of genome-wide association and high-throughput variant detection will lead to the identification of further genes for ASDs.
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