Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
Nature
; 352(6330): 77-9, 1991 Jul 04.
Article
em En
| MEDLINE
| ID: mdl-2062380
ABSTRACT
X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity. We have now investigated whether the androgen receptor gene on the proximal long arm of the X chromosome is a candidate gene for this disease. In patient samples we found androgen receptor gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region. These amplified repeats were absolutely associated with the disease, being present in 35 unrelated patients and none of 75 controls. They segregated with the disease in 15 families, with no recombination in 61 meioses (the maximum log likelihood ratio (lod score) is 13.2 at a recombination rate of 0). The association is unlikely to be due to linkage disequilibrium, because 11 different disease alleles were observed. We conclude that enlargement of the CAG repeat in the androgen receptor gene is probably the cause of this disorder.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Atrofia Muscular Espinal
/
Atrofia Muscular
/
Receptores Androgênicos
/
Mutação
Idioma:
En
Ano de publicação:
1991
Tipo de documento:
Article