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
em Zh
| WPRIM
| ID: wpr-287991
Biblioteca responsável:
WPRO
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>
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Índice:
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Assunto principal:
Doença de Parkinson
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Patologia
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Linhagem
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Sequência de Bases
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Reação em Cadeia da Polimerase
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Saúde da Família
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Análise de Sequência de DNA
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Expansão das Repetições de Trinucleotídeos
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Predisposição Genética para Doença
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Ataxina-2
Limite:
Aged
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Article