Document Detail

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.
MedLine Citation:
PMID:  16865356     Owner:  NLM     Status:  MEDLINE    
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, causing symmetric proximal muscle weakness. SMA is classified in three clinical types, SMA I, SMA II, and SMA III, based on the severity of the symptoms and the age of onset. About 95% of SMA cases are caused by homozygous deletion of the survival motor neuron 1 (SMN1) gene (5q13), or its conversion to SMN2. The molecular diagnosis of this disease is usually carried out by a polymerase chain reaction-restriction fragment length polymorphism approach able to evidence the absence of both SMN1 copies. However, this approach is not able to identify heterozygous healthy carriers, which show a very high frequency in general population (1:50). We used the multiple ligation-dependent probe amplification (MLPA) approach for the molecular diagnosis of SMA in 19 affected patient and in 57 individuals at risk to become healthy carriers. This analysis detected the absence of the homozygous SMN1 in all the investigated cases, and allowed to discriminate between SMN1 deletion and conversion to SMN2 on the basis of the size showed by the peaks specific for the different genes mapped within the SMA critical region. Moreover, MLPA analysis evidenced a condition of the absence of the heterozygous SMN1 in 33 out of the 57 relatives of the affected patients, demonstrating the usefulness of this approach in the identification of healthy carriers. Thus, the MLPA technique represents an easy, low cost, and high throughput system in the molecular diagnosis of SMA, both in affected patients and in healthy carriers.
Oronzo Scarciolla; Liborio Stuppia; Maria Vittoria De Angelis; Stefania Murru; Chiara Palka; Rossella Giuliani; Marta Pace; Antonio Di Muzio; Isabella Torrente; Annunziata Morella; Paola Grammatico; Manlio Giacanelli; Maria Cristina Rosatelli; Antonino Uncini; Bruno Dallapiccola
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Publication Detail:
Type:  Journal Article     Date:  2006-07-22
Journal Detail:
Title:  Neurogenetics     Volume:  7     ISSN:  1364-6745     ISO Abbreviation:  Neurogenetics     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-18     Completed Date:  2007-09-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9709714     Medline TA:  Neurogenetics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  269-76     Citation Subset:  IM    
Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università G. dAnnunzio, Via dei Vestini 35, Chieti-Pescara, 66013, Italy.
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MeSH Terms
DNA Probes
Gene Dosage*
Middle Aged
Polymerase Chain Reaction / methods*
Polymorphism, Restriction Fragment Length*
Risk Factors
Spinal Muscular Atrophies of Childhood / epidemiology,  genetics*
Reg. No./Substance:
0/DNA Probes

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