TY - JOUR
T1 - A tool for the molecular analysis of an early lethal disease
T2 - slide-PCR in spinal muscular atrophy patients
AU - Capon, Francesca
AU - Melchionda, Salvatore
AU - Gennarelli, Massimo
AU - Lo Cicero, Stefania
AU - Giacanelli, Manlio
AU - Novelli, Giuseppe
AU - Dallapiccola, Bruno
PY - 1993/6
Y1 - 1993/6
N2 - DNA was recovered from sections of muscles 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.
AB - DNA was recovered from sections of muscles 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.
KW - Slide-PCR, microsatellites, spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=0027176512&partnerID=8YFLogxK
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U2 - 10.1006/mcpr.1993.1032
DO - 10.1006/mcpr.1993.1032
M3 - Article
C2 - 8366867
AN - SCOPUS:0027176512
SN - 0890-8508
VL - 7
SP - 221
EP - 226
JO - Molecular and Cellular Probes
JF - Molecular and Cellular Probes
IS - 3
ER -