Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy
Genomics & Informatics
;
: 64-68, 2011.
Artículo
en Inglés
| WPRIM
| ID: wpr-98931
ABSTRACT
Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought to identify a genetic basis for MA. Given the predominance of MA in males, we focused on candidate neurological disease genes located on the X chromosome, selecting two X-linked candidate genes, androgen receptor (AR) and ubiquitin-like modifier activating enzyme 1 (UBA1). Screening for genetic variants using patients' genomic DNA revealed three known genetic variants in the coding region of the AR gene one nonsynonymous single-nucleotide polymorphism (SNP; rs78686797) encoding Leu57Gln, and two variants of polymorphic trinucleotide repeat segments that encode polyglutamine (CAG repeat; rs5902610) and polyglycine (GGC repeat; rs3138869) tracts. Notably, the Leu57Gln polymorphism was found in two patients with MA from 24 MA patients, whereas no variants were found in 142 healthy male controls. However, the numbers of CAG and GGC repeats in the AR gene were within the normal range. These data suggest that the Leu57Gln polymorphism encoded by the X-linked AR gene may contribute to the development of MA.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Péptidos
/
Valores de Referencia
/
Cromosoma X
/
ADN
/
Receptores Androgénicos
/
Atrofias Musculares Espinales de la Infancia
/
Estudios de Casos y Controles
/
Tamizaje Masivo
/
Repeticiones de Trinucleótidos
/
Extremidad Superior
Tipo de estudio:
Estudio observacional
/
Factores de riesgo
/
Estudio de tamizaje
Límite:
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Genomics & Informatics
Año:
2011
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS