Establishment and application of an analytical method for PINK1 gene exon copy number / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 158-161, 2010.
Artículo
en Chino
| WPRIM
| ID: wpr-349021
ABSTRACT
<p><b>OBJECTIVE</b>To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP).</p><p><b>METHODS</b>Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls.</p><p><b>RESULTS</b>Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group.</p><p><b>CONCLUSION</b>An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Proteínas Quinasas
/
Estudios de Casos y Controles
/
Reacción en Cadena de la Polimerasa
/
Exones
/
Dosificación de Gen
/
Trastornos Parkinsonianos
/
Genética
/
Métodos
Tipo de estudio:
Estudio observacional
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2010
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS