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.
Artículo
en Chino
| 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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedad de Parkinson
/
Patología
/
Linaje
/
Secuencia de Bases
/
Reacción en Cadena de la Polimerasa
/
Salud de la Familia
/
Análisis de Secuencia de ADN
/
Expansión de Repetición de Trinucleótido
/
Predisposición Genética a la Enfermedad
/
Ataxina-2
Límite:
Anciano
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Artículo
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