NEURAL-TUBE DEFECTS IN FRANCE - SEGREGATION ANALYSIS
NEURAL-TUBE DEFECTS IN FRANCE - SEGREGATION ANALYSIS
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DOI：
10.1002/ajmg.1320110305
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发表时间：
1982-01-01
期刊：
影响因子：
--
通讯作者：
ELSTON, RC
中科院分区：
文献类型：
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作者：
DEMENAIS, F;LEMERRER, M;ELSTON, RC
分离分析进行了一个子集的一个大的法国数据，包括298个核心家庭。本分析中使用了两种模型：传输概率模型[Elston和Stewart，1971; Elston，1981]和混合模型[Morton和MacLean，1974]。这两种模型是一致的神经管缺陷的家族聚集，在这个样本中，是由于隐性主基因或兄弟姐妹的环境效应，或两个因素的分离。在每种情况下，还涉及其他环境因素。这些结果进行了比较，其他研究的结果和讨论方面的多样性的流行病学特征显示不同的人群。英国一项研究中对垂直传播的一些观察，以及法国和英国受影响的第一代堂兄弟的比例，使我们拒绝可能没有传播。我们提出了一个单基因组件与环境因素的影响很大，其中一些可能是共同的同胞，解释神经管缺陷的发生在这个样本。
Segregation analysis was performed on a subset of a large body of French data comprising 298 nuclear families. Two models were used in this analysis: the transmission probability model [Elston and Stewart, 1971; Elston, 1981] and the mixed model [Morton and MacLean, 1974]. Both models are consistent with familial aggregation of neural tube defects, in this sample, being due to either the segregation of a recessive major gene or a sibling environmental effect, or both factors. In each case, other environmental factors are also involved. These results were compared to the findings of other studies and discussed in respect to the diversity of the epidemiological features displayed by different populations. Some observations of vertical transmission in a British study and the proportion of affected first cousins, in both France and Great Britain, lead us to reject a possible absence of transmission. We propose a monogenic component with a large influence of environmental factors, some of which may be common to sibs, to explain the occurrence of neural tube defects in this sample.