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对亨廷顿舞蹈症患者尸检脑样本的重组DNA研究。

Recombinant DNA studies on stored necropsy brain samples from patients with Huntington's chorea.

作者信息

Upadhyaya M, Reynolds G P, Harper P S

出版信息

J Clin Pathol. 1985 Oct;38(10):1093-5. doi: 10.1136/jcp.38.10.1093.

DOI:10.1136/jcp.38.10.1093
PMID:2932475
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC499447/
Abstract

An analysis of deoxyribonucleic acid (DNA) in deep frozen brain samples taken from 100 patients with Huntington's chorea after death showed undegraded DNA in 44 cases. Of these, 16 were analysed with G8, a recombinant DNA probe, linked to the Huntington's chorea locus. In all cases unambiguous Southern blots were obtainable. No correlation between the yield of DNA and the principal storage factors was observed. The use of stored brain tissue obtained after death from patients with Huntington's chorea should be considered when analysis of DNA is needed for predictive studies, but DNA should preferably be isolated from the tissue before storage as degradation in these samples can occur.

摘要

对100例亨廷顿舞蹈症患者死后提取的深度冷冻脑样本中的脱氧核糖核酸(DNA)进行分析,结果显示44例样本中的DNA未降解。其中16例样本用与亨廷顿舞蹈症基因座相连的重组DNA探针G8进行了分析。在所有病例中均可获得清晰明确的Southern印迹。未观察到DNA产量与主要储存因素之间存在相关性。当需要进行预测性研究而分析DNA时,应考虑使用亨廷顿舞蹈症患者死后获得的储存脑组织,但最好在储存前从组织中分离出DNA,因为这些样本可能会发生降解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01b0/499447/5cce5dd67928/jclinpath00193-0010-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01b0/499447/5cce5dd67928/jclinpath00193-0010-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01b0/499447/5cce5dd67928/jclinpath00193-0010-a.jpg

相似文献

1
Recombinant DNA studies on stored necropsy brain samples from patients with Huntington's chorea.对亨廷顿舞蹈症患者尸检脑样本的重组DNA研究。
J Clin Pathol. 1985 Oct;38(10):1093-5. doi: 10.1136/jcp.38.10.1093.
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Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).良性遗传性舞蹈病与D4S10位点(探针G8)之间不存在紧密连锁。
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引用本文的文献

1
Neuropathological diagnosis and CAG repeat expansion in Huntington's disease.亨廷顿舞蹈病的神经病理学诊断与CAG重复序列扩增
J Neurol Neurosurg Psychiatry. 1996 Jan;60(1):78-81. doi: 10.1136/jnnp.60.1.78.

本文引用的文献

1
A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。
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2
Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.对人类X染色体短臂上杜兴氏肌营养不良症基因座两侧的两个克隆DNA序列进行连锁分析。
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单拷贝序列与人类X和Y染色体上的多态性和同源基因座杂交。
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