幽门狭窄的基因分析提示一种特定的母体效应。
Genetic analyses of pyloric stenosis suggesting a specific maternal effect.
作者信息
Kidd K K, Spence M A
出版信息
J Med Genet. 1976 Aug;13(4):290-4. doi: 10.1136/jmg.13.4.290.
Abstract
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.
摘要
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。
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本文引用的文献
1
The familial incidence of congenital pyloric stenosis.先天性幽门狭窄的家族发病率。
Ann Eugen. 1951 Dec;16(3):260-81. doi: 10.1111/j.1469-1809.1951.tb02479.x.
2
The incidence of congenital pyloric stenosis related to birth rank and maternal age.与出生顺序和母亲年龄相关的先天性幽门狭窄的发病率。
Ann Eugen. 1951 Dec;16(3):249-59. doi: 10.1111/j.1469-1809.1951.tb02478.x.
3
Pyloric stenosis in identical twins; a case report.
J Indiana State Med Assoc. 1951 Aug;44(8):762.
4
Pyloric stenosis in twins.双胞胎中的幽门狭窄
Arch Dis Child. 1951 Feb;26(125):45-9. doi: 10.1136/adc.26.125.45.
5
Pyloric stenosis in fraternal twins.
Harper Hosp Bull. 1962 Nov-Dec;20:244-7.
6
An interpretation of familial aggregation based on multiple genetic and environmental factors.基于多种遗传和环境因素的家族聚集性解读。
Ann N Y Acad Sci. 1961 Jun 7;91:769-80. doi: 10.1111/j.1749-6632.1961.tb31106.x.
7
Congenital hypertrophic pyloric stenosis in twins.双胞胎先天性肥厚性幽门狭窄
Arch Dis Child. 1953 Oct;28(141):351-8. doi: 10.1136/adc.28.141.351.
8
Schizophrenia: evidence for the major gene hypothesis.精神分裂症：主要基因假说的证据。
Behav Genet. 1970 Feb;1(1):3-10. doi: 10.1007/BF01067366.
9
10
Production of duodenal ulcers and hypertrophic pyloric stenosis by administration of pentagastrin to pregnant and newborn dogs.对怀孕和新生犬给予五肽胃泌素导致十二指肠溃疡和肥厚性幽门狭窄
Nature. 1970 Jan 17;225(5229):284-5. doi: 10.1038/225284a0.
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