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人类低电压脑电图的遗传学研究。

A genetic study of the human low-voltage electroencephalogram.

作者信息

Anokhin A, Steinlein O, Fischer C, Mao Y, Vogt P, Schalt E, Vogel F

机构信息

Institut für Humangenetik und Anthropologie, Universität, Heidelberg, Federal Republic of Germany.

出版信息

Hum Genet. 1992 Sep-Oct;90(1-2):99-112. doi: 10.1007/BF00210751.

Abstract

The studied phenotype, the low-voltage electroencephalogram (LVEEG), is characterized by the absence of an alpha rhythm from the resting EEG. In previous studies, evidence was found for a simple autosomal-dominant mode of inheritance of the LVEEG. Such a polymorphism in brain function can be used as a research model for the stepwise elucidation of the molecular mechanism involved in those aspects of neuronal activity that are reflected in the EEG. Linkage with the variable number of tandem repeats (VNTR) marker CMM6 (D20S19) and localization of an LVEEG (EEGV1) gene on 20q have previously been reported, and genetic heterogeneity has been demonstrated. This latter result has been corroborated by studying new marker (MS214). The phenotype of the LVEEG is described here in greater detail. Its main characteristic is the absence of rhythmic alpha activity, especially in occipital leads, whereas other wave forms such as beta or theta waves may be present. Analysis of 17 new families (some of them large), together with 60 previously described nuclear families, supports the genetic hypothesis of an autosomal-dominant mode of inheritance. Problems connected with the analysis of linkage heterogeneity, exclusion mapping, and the study of multipoint linkage are discussed. A possible explanation of the localization of LVEEG in the close vicinity of another gene influencing synchronization of the normal EEG, the gene for benign neonatal epilepsie, is given.

摘要

所研究的表型,即低电压脑电图(LVEEG),其特征是静息脑电图中缺乏α节律。在先前的研究中,发现了LVEEG的简单常染色体显性遗传模式的证据。这种脑功能多态性可作为一种研究模型,用于逐步阐明脑电图所反映的神经元活动那些方面所涉及的分子机制。先前已报道了与串联重复序列(VNTR)标记CMM6(D20S19)的连锁以及LVEEG(EEGV1)基因在20号染色体上的定位,并证实了遗传异质性。通过研究新标记(MS214),这一结果得到了进一步证实。本文对LVEEG的表型进行了更详细的描述。其主要特征是缺乏节律性α活动,尤其是枕叶导联,而可能存在其他波形,如β波或θ波。对17个新家族(其中一些家族规模较大)以及60个先前描述的核心家族的分析支持了常染色体显性遗传模式的遗传假说。讨论了与连锁异质性分析、排除定位和多点连锁研究相关的问题。给出了LVEEG定位在另一个影响正常脑电图同步的基因(良性新生儿癫痫基因)附近的一种可能解释。

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