Identification of an HD patient with a (CAG)(180) repeat expansion and the propagation of highly expanded CAG repeats in lambda phage

被引：48

作者：

Sathasivam, K ^{[1
]}

Amaechi, I ^{[1
]}

Mangiarini, L ^{[1
]}

Bates, G ^{[1
]}

机构：

[1] UNITED MED & DENT SCH,GUYS HOSP,LONDON SE1 9RT,ENGLAND

来源：

HUMAN GENETICS | 1997年 / 99卷 / 05期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1007/s004390050432

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Huntington's disease mutation has been identified as a CAG/polyglutamine repeat expansion in a large gene of unknown function. In order to develop the transgenic systems necessary to uncover the molecular pathology of this disorder, it is necessary to be able to manipulate highly expanded CAG repeats in a cloned form. We have identified a patient with an expanded allele of greater than 170 repeat units and have cloned the mutant allele in the lambda zap vector. The recovery of highly expanded repeats after clone propagation was more efficient when repeats were maintained as lambda phage clones rather than as the plasmid counterparts. Manipulation of the repeats as phage clones has enabled us to generate Huntington's disease transgenic mice that contain highly expanded (CAG)(115)-(CAG)(150) repeats and that develop a progressive neurological phenotype.

引用

页码：692 / 695

页数：4

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