G E Moore, A Ivens, R Newton, M A Balacs, D J Henderson, O Jensson
{"title":"参与面部裂和脊柱裂调节的X染色体基因。","authors":"G E Moore, A Ivens, R Newton, M A Balacs, D J Henderson, O Jensson","doi":"10.1597/1545-1569(1990)027<0131:xcgiit>2.3.co;2","DOIUrl":null,"url":null,"abstract":"<p><p>Congenital malformations such as cleft palate and spina bifida may be multifactorial in etiology. They occur as a result of both environmental agents and defective genes. Consequently it is both practically and intellectually difficult to study their effects experimentally. The advent of molecular biology technology has enabled many genes on the human chromosome to be mapped and some to be cloned. Using these techniques and families that display common congenital malformations inherited in a purely genetic manner, the genetic defects can be separated from the environmental components. This report documents our studies of several families that have cleft palate or spina bifida as X-linked disorders. Their phenotype is similar to the more common multifactorial cases but segregates as a single gene in an X-linked fashion. Localization of these genes using different X chromosome DNA probes and linkage analysis is the first step towards our understanding of the genetic contribution to the etiology of congenital malformations.</p>","PeriodicalId":76622,"journal":{"name":"The Cleft palate journal","volume":"27 2","pages":"131-5"},"PeriodicalIF":0.0000,"publicationDate":"1990-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1597/1545-1569(1990)027<0131:xcgiit>2.3.co;2","citationCount":"9","resultStr":"{\"title\":\"X chromosome genes involved in the regulation of facial clefting and spina bifida.\",\"authors\":\"G E Moore, A Ivens, R Newton, M A Balacs, D J Henderson, O Jensson\",\"doi\":\"10.1597/1545-1569(1990)027<0131:xcgiit>2.3.co;2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Congenital malformations such as cleft palate and spina bifida may be multifactorial in etiology. They occur as a result of both environmental agents and defective genes. Consequently it is both practically and intellectually difficult to study their effects experimentally. The advent of molecular biology technology has enabled many genes on the human chromosome to be mapped and some to be cloned. Using these techniques and families that display common congenital malformations inherited in a purely genetic manner, the genetic defects can be separated from the environmental components. This report documents our studies of several families that have cleft palate or spina bifida as X-linked disorders. Their phenotype is similar to the more common multifactorial cases but segregates as a single gene in an X-linked fashion. Localization of these genes using different X chromosome DNA probes and linkage analysis is the first step towards our understanding of the genetic contribution to the etiology of congenital malformations.</p>\",\"PeriodicalId\":76622,\"journal\":{\"name\":\"The Cleft palate journal\",\"volume\":\"27 2\",\"pages\":\"131-5\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1990-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1597/1545-1569(1990)027<0131:xcgiit>2.3.co;2\",\"citationCount\":\"9\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Cleft palate journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1597/1545-1569(1990)027<0131:xcgiit>2.3.co;2\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Cleft palate journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1597/1545-1569(1990)027<0131:xcgiit>2.3.co;2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
X chromosome genes involved in the regulation of facial clefting and spina bifida.
Congenital malformations such as cleft palate and spina bifida may be multifactorial in etiology. They occur as a result of both environmental agents and defective genes. Consequently it is both practically and intellectually difficult to study their effects experimentally. The advent of molecular biology technology has enabled many genes on the human chromosome to be mapped and some to be cloned. Using these techniques and families that display common congenital malformations inherited in a purely genetic manner, the genetic defects can be separated from the environmental components. This report documents our studies of several families that have cleft palate or spina bifida as X-linked disorders. Their phenotype is similar to the more common multifactorial cases but segregates as a single gene in an X-linked fashion. Localization of these genes using different X chromosome DNA probes and linkage analysis is the first step towards our understanding of the genetic contribution to the etiology of congenital malformations.