Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy
Genomics & Informatics
;
: 64-68, 2011.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Peptídeos
/
Valores de Referência
/
Cromossomo X
/
DNA
/
Receptores Androgênicos
/
Atrofias Musculares Espinais da Infância
/
Estudos de Casos e Controles
/
Programas de Rastreamento
/
Repetições de Trinucleotídeos
/
Extremidade Superior
Tipo de estudo:
Estudo observacional
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Genomics & Informatics
Ano de publicação:
2011
Tipo de documento:
Artigo
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