Nonisotopic method for accurate detection of (CAG)(n) repeats causing Huntington disease

被引：0

作者：

Muglia, M ^{[1
]}

Leone, O ^{[1
]}

Annesi, G ^{[1
]}

Gabriele, AL ^{[1
]}

Imbrogno, E ^{[1
]}

Grandinetti, C ^{[1
]}

Conforti, FL ^{[1
]}

Naso, F ^{[1
]}

Brancati, C ^{[1
]}

机构：

[1] CNR, IST MED SPERIMENTALE & BIOTECNOL, I-87100 COSENZA, ITALY

来源：

CLINICAL CHEMISTRY | 1996年 / 42卷 / 10期

关键词：

molecular genetics; expanded trinucleotide repeats; polymerase chain reaction; electrophoresis; polyacrylamide gel;

D O I：

暂无

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Huntington disease (HD) is a neurodegenerative disorder caused by an expanded trinucleotide repeat (GAG), located at the 5' end of the novel IT15 gene. Discovery of this expansion allows the molecular diagnosis of HD by measuring repeat length. We applied a simple nonisotopic method to detect (GAG)(n) repeats, avoiding both radioactive and Southern transfer analysis. The assay is based on direct visualization of electrophoresed PCR products, after silver nitrate gel staining. Its accurate sizing of HD alleles allows presymptomatic diagnosis of at-risk persons. By avoiding isotopic manipulations, the method is safe and accurate, with no radioactive background bands. Furthermore, because it permits direct allele visualization after gel staining, the method is simple and rapid, allowing allele sizing within hours rather than days.

引用

页码：1601 / 1603

页数：3

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