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| Carrasco Salas,P; Palma Milla,C; López Siles,J. |
| Copy number analysis of the SMN (Survival Motor Neuron) genes in healthy individuals with no history of spinal muscular atrophy (SMA) is important to assess carrier frequency, the frequency of patients with two copies of SMN1 on one chromosome (a factor that could lead to a false-negative result when testing for SMA carriers) and the mechanisms responsible for these chromosomes with two copies of SMN1. We retrospectively analyzed the copy number of SMN1 and SMN2 genes detected in blood samples of 119 gamete donors by Multiplex Ligation- Dependent Probe Amplification (MLPA) assay during the last two years. The number of donors with a heterozygous deletion of exon 7 of SMN1 was 1 in 59 samples (1.7 %). It was estimated that 5.4 % of the studied alleles... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SMN genes; SMA; Carrier; Gene conversion. |
| Ano: 2015 |
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332015000100001 |
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