A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.
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.
Capon
F
F
Dipartimento di Sanità Pubblica e Biologia Cellulare Università Tor Vergata di Roma, Italy.
Melchionda
S
S
Gennarelli
M
M
Lo Cicero
S
S
Giacanelli
M
M
Novelli
G
G
Dallapiccola
B
B
D000483:Alleles; D001483:Base Sequence; D001706:Biopsy; D002874:Chromosome Mapping; D004276:DNA, Satellite / Q000032:analysis* / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D006801:Humans; D008297:Male; D008853:Microscopy / Q000295:instrumentation / Q000379:methods; D008969:Molecular Sequence Data; D009132:Muscles / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction / Q000379:methods*; D012189:Retrospective Studies; D013696:Temperature
D004276:DNA, Satellite