玛格丽塔岛外胚层发育不良（ED4）基因与11q23的连锁不平衡定位。
Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.
作者信息
Suzuki K, Bustos T, Spritz R A
机构信息
Department of Medical Genetics, University of Wisconsin, Madison, USA.
出版信息
Am J Hum Genet. 1998 Oct;63(4):1102-7. doi: 10.1086/302072.
Abstract
Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate. We have used an affected-only DNA-pooling strategy to carry out linkage disequilibrium mapping of the ED4 gene to 11q23. Haplotype analysis of four complex Margarita Island ED4 families localized the ED4 gene to an approximately 1-2-Mb interval spanned by just two YACs.
摘要
玛格丽塔岛外胚层发育不良（ED4）是一种常染色体隐性疾病，其特征为面容异常、牙齿畸形、毛发稀少、掌跖角化过度、甲发育异常、并指（趾）畸形以及唇腭裂。我们采用仅含患病个体的DNA池策略，将ED4基因进行连锁不平衡定位至11q23。对四个复杂的玛格丽塔岛ED4家系进行单倍型分析，将ED4基因定位到仅由两个酵母人工染色体（YAC）覆盖的约1 - 2兆碱基区间内。
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