Analysis of ATP2A2 gene mutations in a pedigree and a sporadic case with Darier disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 641-644, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-345391
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.</p><p><b>METHODS</b>Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations.</p><p><b>RESULTS</b>A missense mutation c.1484C>T (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2A>G was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls.</p><p><b>CONCLUSION</b>Mutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Salud de la Familia
/
Mutación Puntual
/
Empalme Alternativo
/
Predisposición Genética a la Enfermedad
/
Mutación Missense
/
ATPasas Transportadoras de Calcio del Retículo Sarcoplásmico
/
Genética
Límite:
Anciano
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Artículo
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