Genetic and clinical analysis in a Parkinson's disease family caused by expansion of SCA2 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 776-779, 2015.
Article
Dans Chinois
| WPRIM
| ID: wpr-287991
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene.</p><p><b>METHODS</b>The CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing.</p><p><b>RESULTS</b>Molecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family members. Two patients had pure CAG triplet repeat expansion in their ATXN2 gene, while others had CAA interruption.</p><p><b>CONCLUSION</b>Expanded CAG/CAA repeat in the ATXN2 gene is the causative mutation of the disease in this family.The 8 members with expanded CAG/CAA repeat may be asymptomatic patients. It is supposed that the number and configuration of the ATXN2 CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Maladie de Parkinson
/
Anatomopathologie
/
Pedigree
/
Séquence nucléotidique
/
Réaction de polymérisation en chaîne
/
Santé de la famille
/
Analyse de séquence d'ADN
/
Expansion de trinucléotide répété
/
Prédisposition génétique à une maladie
/
Ataxine-2
Limites du sujet:
Adulte très âgé
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2015
Type:
Article
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