Kidd K K, Spence M A
J Med Genet. 1976 Aug;13(4):290-4. doi: 10.1136/jmg.13.4.290.
Data on pyloric stenosis are analysed by multiple threshold methods that incorporate the sex effect. The polygenic model of inheritance is rejected; the single major locus model can only account for 37% of the cases having a genetic aetiology, requiring an environmental effect to account for the remainder of the cases. A maternal-fetal interaction for gastrin production and sensitivity is postulated to explain all the existing data. The empirical risk figures given are considered to be the most accurate basis for genetic counselling until additional studies provide a sound biological basis for a quantitative genetic model.
采用纳入性别效应的多种阈值方法分析幽门狭窄的数据。遗传的多基因模型被否定；单一主要基因座模型仅能解释37%具有遗传病因的病例，其余病例需要环境效应来解释。假定存在母婴在胃泌素产生和敏感性方面的相互作用来解释所有现有数据。在进一步研究为定量遗传模型提供可靠生物学基础之前，给出的经验风险数字被认为是遗传咨询最准确的依据。
