神经元型一氧化氮合酶基因（NOS1）作为婴儿幽门狭窄易感基因座的遗传学证据。
Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis.
作者信息
Chung E, Curtis D, Chen G, Marsden P A, Twells R, Xu W, Gardiner M
机构信息
Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
出版信息
Am J Hum Genet. 1996 Feb;58(2):363-70.
Abstract
The etiological role of the gene for neuronal nitric oxide synthase (NOS1) in infantile pyloric stenosis (PS) was investigated by analysis of two intragenic polymorphisms (NOS1a and NOS1b) in 27 families. There was significant overall transmission disequilibrium between PS and NOS1a (P = .006). Consideration of each allele independently revealed a highly significant tendency for allele 7 (210 bp) to be preferentially transmitted to the affected offspring (P = .0006). These observations suggest that NOS1 is a susceptibility locus for PS.
摘要
通过分析27个家庭中的两个基因内多态性（NOS1a和NOS1b），研究了神经元型一氧化氮合酶（NOS1）基因在婴儿幽门狭窄（PS）中的病因学作用。PS与NOS1a之间存在显著的总体传递不平衡（P = 0.006）。单独考虑每个等位基因发现，等位基因7（210 bp）有高度显著的倾向优先传递给受影响的后代（P = 0.0006）。这些观察结果表明，NOS1是PS的一个易感基因座。
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