Familial dyslexia: use of genetic linkage data to define subtypes.
Familial dyslexia: use of genetic linkage data to define subtypes.
复制标题
家族性阅读障碍：使用遗传连锁数据来定义亚型。
DOI：
10.1097/00004583-199003000-00008
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发表时间：
1990
影响因子：
13.3
通讯作者：
Ing,PS
中科院分区：
文献类型：
--
作者：
Smith,SD;Pennington,BF;Kimberling,WJ;Ing,PS
特殊阅读障碍是临床上异质性的复杂行为障碍的一个例子。它在病因和过程（发病机制）水平上也可能是异质的，但病因、过程和临床结果可能没有1：1：1的映射。因此，根据临床特征对病例进行分类可能不会发现潜在的过程或病因，而根据病因定义亚组可能是有益的。在某些情况下有遗传病因学的证据，但也有遗传异质性。特定阅读障碍的可能遗传模型包括多基因遗传、寡基因遗传和单基因遗传，有几种类型的遗传分析可用于确定可能存在的这些遗传模式。在单基因和寡基因疾病中，单个基因的鉴定是可能的。临床研究和分子分析可以用来确定基因功能。
Specific reading disability is an example of a complex behavioral disorder which is clinically heterogeneous. It is probably also heterogeneous at the levels of etiology and process (pathogenesis), but there may not be a 1:1:1 mapping of etiology to process to clinical outcome. Thus, classification of cases by clinical features may not lead to discovery of the underlying processes or etiologies, and it may be profitable to define subgroups by etiology. There is evidence for genetic etiology in some cases, but there is genetic heterogeneity as well. Possible genetic models for specific reading disability include polygenic, oligogenic, and single gene inheritance, and there are several types of genetic analysis that can be used to determine which of these modes of inheritance may be present. Identification of individual genes is possible in single gene and oligogenic disorders. Clinical studies and molecular analysis can then be used to determine gene function.