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分子遗传学:在临床神经科学中的应用

Molecular genetics: applications to the clinical neurosciences.

作者信息

Martin J B

机构信息

Neurology Service, Massachusetts General Hospital, Boston.

出版信息

Science. 1987 Nov 6;238(4828):765-72. doi: 10.1126/science.2890208.

Abstract

Application of molecular biology, by means of linkage analysis and DNA probes that demonstrate restriction fragment length polymorphisms (RFLPs), has resulted in the chromosomal localization of the genes responsible for a number of neurological disorders. Characterization of the structure and function of individual genes for these diseases is in an early stage, but information available indicates that the molecular mechanisms underlying phenotypic expression of neurological diseases encompass a wide range of genetic errors ranging from the most minor (a single-base pair mutation) to large chromosomal deletions. Linkage analysis can now be used for genetic counseling in several of these disorders.

摘要

通过连锁分析和能显示限制性片段长度多态性(RFLP)的DNA探针来应用分子生物学,已实现了许多神经疾病相关基因的染色体定位。对于这些疾病中单个基因的结构和功能的表征尚处于早期阶段,但现有信息表明,神经疾病表型表达的分子机制涵盖了广泛的遗传错误,从最微小的(单碱基对突变)到大型染色体缺失。连锁分析现在可用于其中几种疾病的遗传咨询。

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