Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1104-1106, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776736
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a pedigree affected with X-linked adrenoleukodystrophy presenting as spastic paraplegia of the lower limbs.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Candidate variant was verified by PCR and Sanger sequencing.@*RESULTS@#Both the proband and his mother presented with walking difficulty. A previously known variant, c.623T to A (p.V208E), was identified in the ABCD1 gene mapped on chromosome X in both.@*CONCLUSION@#X-link adrenoleukodystrophy should be taken into account as a possible diagnosis for this pedigree.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Paraplejía Espástica Hereditaria
/
Pruebas Genéticas
/
Adrenoleucodistrofia
/
Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP
/
Genética
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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