Citation
Moura, Karla Cristina Vasconcelos, et al. "Exon Dosage Variations in Brazilian Patients With Parkinson's Disease: Analysis of SNCA, PARKIN, PINK1 and DJ-1 Genes." Disease Markers, vol. 32, no. 3, 2012, pp. 173-8.
Moura KC, Junior MC, de Rosso AL, et al. Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes. Dis Markers. 2012;32(3):173-8.
Moura, K. C., Junior, M. C., de Rosso, A. L., Nicaretta, D. H., Pereira, J. S., José Silva, D., Santos-Rebouças, C. B., & Pimentel, M. M. (2012). Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes. Disease Markers, 32(3), 173-8. https://doi.org/10.3233/DMA-2011-0873
Moura KC, et al. Exon Dosage Variations in Brazilian Patients With Parkinson's Disease: Analysis of SNCA, PARKIN, PINK1 and DJ-1 Genes. Dis Markers. 2012;32(3):173-8. PubMed PMID: 22377733.
TY - JOUR
T1 - Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes.
AU - Moura,Karla Cristina Vasconcelos,
AU - Junior,Mário Campos,
AU - de Rosso,Ana Lúcia Zuma,
AU - Nicaretta,Denise Hack,
AU - Pereira,João Santos,
AU - José Silva,Delson,
AU - Santos-Rebouças,Cíntia Barros,
AU - Pimentel,Márcia Mattos Gonçalves,
PY - 2012/3/2/entrez
PY - 2012/3/2/pubmed
PY - 2012/6/16/medline
SP - 173
EP - 8
JF - Disease markers
JO - Dis Markers
VL - 32
IS - 3
N2 - Parkinson's disease is one of the most common neurodegenerative disorders associated with aging, reaching ∼ 2% of individuals over 65 years. Knowledge achieved in the last decade about the genetic basis of Parkinson's disease clearly shows that genetic factors play an important role in the etiology of this disorder. Exon dosage variations account for a high proportion of Parkinson's disease mutations, mainly for PARKIN gene. In the present study, we screened genomic rearrangements in SNCA, PARKIN, PINK1 and DJ-1 genes in 102 Brazilian Parkinson's disease patients with early onset (age of onset ⩽ 50 years), using the multiplex ligation-dependent probe amplification method. Family history was reported by 24 patients, while 78 were sporadic cases. Screening of exon dosage revealed PARKIN and PINK1 copy number variations, but no dosage alteration was found in SNCA and DJ-1 genes. Most of the carriers harbor heterozygous deletions or duplications in the PARKIN gene and only one patient was found to have a deletion in PINK1 exon 1. Data about dosage changes are scarce in the Brazilian population, which stresses the importance of including exon dosage analysis in Parkinson's disease genetic studies.
SN - 1875-8630
UR - https://www.unboundmedicine.com/medline/citation/22377733/Exon_dosage_variations_in_Brazilian_patients_with_Parkinson's_disease:_analysis_of_SNCA_PARKIN_PINK1_and_DJ_1_genes_
L2 - https://doi.org/10.3233/DMA-2011-0873
DB - PRIME
DP - Unbound Medicine
ER -