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A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.

作者信息

Capon F, Melchionda S, Gennarelli M, Lo Cicero S, Giacanelli M, Novelli G, Dallapiccola B

机构信息

Dipartimento di Sanità Pubblica e Biologia Cellulare Università Tor Vergata di Roma, Italy.

出版信息

Mol Cell Probes. 1993 Jun;7(3):221-6. doi: 10.1006/mcpr.1993.1032.

DOI:10.1006/mcpr.1993.1032
PMID:8366867
Abstract

DNA was recovered from sections of muscle biopsies of 20 spinal muscular atrophy (SMA) patients fixed on microscopic slides and stored from one to 20 years at room temperature. Microsatellite DNA markers tightly linked to the SMA locus were amplified using the polymerase chain reaction (PCR) to obtain specific amplified products. The procedure was successful in all cases, and allowed prenatal diagnosis in one at-risk pregnancy. In our hands this procedure is quick, sensitive and reproducible.

摘要

相似文献

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A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.
Mol Cell Probes. 1993 Jun;7(3):221-6. doi: 10.1006/mcpr.1993.1032.
2
A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.重组分析显示,多拷贝微卫星标记CMS1的一个亚位点定位于脊髓性肌萎缩症(SMA)近端。
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Mutation analysis in spinal muscular atrophy using allele-specific polymerase chain reaction.使用等位基因特异性聚合酶链反应对脊髓性肌萎缩症进行突变分析。
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PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies.
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Refinement of the spinal muscular atrophy locus by genetic and physical mapping.通过遗传和物理图谱定位对脊髓性肌萎缩症基因座进行精细定位。
Am J Hum Genet. 1995 Jan;56(1):202-9.
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Isolation of microsatellites from the spinal muscular atrophy (SMA) candidate region on chromosome 5q and linkage analysis in Spanish SMA families.从5号染色体q臂上的脊髓性肌萎缩症(SMA)候选区域分离微卫星并在西班牙SMA家系中进行连锁分析。
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Prenat Diagn. 2001 Jun;21(6):498-503. doi: 10.1002/pd.110.

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