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亨廷顿舞蹈症的分子遗传学研究方法。

A molecular genetic approach to Huntington's disease.

作者信息

Gusella J F, Wexler N S, Conneally P M

机构信息

Neurogenetics Laboratory, Massachusetts General Hospital, Boston.

出版信息

Res Publ Assoc Res Nerv Ment Dis. 1987;65:133-41.

PMID:2968633
Abstract

At this time it is not possible to predict exactly how the function of the HD gene will be determined even after the responsible DNA mutation has been identified. The discovery of a function for a protein or gene of known structure is still a major problem in all species. The ease or difficulty of performing this step in HD will depend in large part on the nature of the HD gene. Characterization of the HD gene and its normal counterpart will certainly provide improved diagnostic capability. It is to be hoped that this information will also lead to effective therapy to ease the suffering of the disease's victims. In the long term, investigations of this type in HD and other neurogenetic disorders will undoubtedly provide new insights into the operation of the human nervous system.

摘要

目前,即使已经确定了相关的DNA突变,也无法准确预测HD基因的功能将如何被确定。对于所有物种而言,发现具有已知结构的蛋白质或基因的功能仍然是一个主要问题。在HD中完成这一步骤的难易程度在很大程度上取决于HD基因的性质。对HD基因及其正常对应物的表征肯定会提高诊断能力。希望这些信息也能带来有效的治疗方法,以减轻该病患者的痛苦。从长远来看,对HD和其他神经遗传性疾病的这类研究无疑将为人类神经系统的运作提供新的见解。

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