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与20号染色体上的遗传标记相关的良性家族性新生儿惊厥。

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

作者信息

Leppert M, Anderson V E, Quattlebaum T, Stauffer D, O'Connell P, Nakamura Y, Lalouel J M, White R

机构信息

Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.

出版信息

Nature. 1989 Feb 16;337(6208):647-8. doi: 10.1038/337647a0.

Abstract

Recurrent seizures, commonly known as epilepsies, occur in 1.7% of the general population by age 40. The factors that initiate or underlie seizures are not well understood, but trauma, infectious disease and genetics have been implicated. An understanding of the molecular basis of seizures would shed light on the basic mechanisms of neuronal homeostasis and allow new therapeutic strategies to be explored. Here, we report the mapping of an epilepsy gene to a specific chromosomal region, on the basis of cosegregation of two closely-linked DNA markers with a form of epilepsy known as benign familial neonatal convulsions (BFNC2, 12120 in ref. 3). The linked markers confirm the genetic basis and autosomal dominant inheritance of this trait, and localize the gene causing BFNC in this family to the long arm of chromosome 20. This regional placement is the first step towards the isolation of a gene involved in neuronal activity in the human brain.

摘要

复发性癫痫发作,通常被称为癫痫,在40岁时的普通人群中发病率为1.7%。引发癫痫发作或作为其基础的因素尚未完全明确,但创伤、传染病和遗传因素都与之有关。了解癫痫发作的分子基础将有助于阐明神经元稳态的基本机制,并为探索新的治疗策略提供可能。在此,我们报告了一个癫痫基因被定位到特定染色体区域,这是基于两个紧密连锁的DNA标记与一种名为良性家族性新生儿惊厥(BFNC2,参考文献3中的12120)的癫痫形式的共分离现象得出的。这些连锁标记证实了该性状的遗传基础和常染色体显性遗传,并将导致这个家族中BFNC的基因定位到20号染色体的长臂上。这种区域定位是分离参与人类大脑神经元活动的基因的第一步。

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