A Case of the McCune: Albright Syndrome Associated with Activating Mutations of Stimulatory G Protein / 대한내분비학회지
Journal of Korean Society of Endocrinology
;
: 779-785, 1999.
Artigo
em Coreano
| WPRIM
| ID: wpr-46200
ABSTRACT
McCune-Albright syndrome (MAS) is a sporadic disease classically including polyostotic fibrous dysplasia, cafe -au-lait spots, sexual precocity, and other hyperfunctional endocrinopathies. Recent investigations suggest an etiological role for activating embryonic somatic missense mutations in the gene for the a subunit of Gs (Gsa), the G protein that stimulates adenylyl cyclase. DNA from bone, ovary, and blood was analyzed by using polymerase chain reaction and sequenced. A embryological somatic mutation of Gsa gene encoding substitution of a Cys for Arg at amino acid 201 from cells of dysplastic bone and ovary was observed, and the distribution of mutant gene reveals mosaic pattern. We report a case of McCune-Albright syndrome with an activating mutation at codon 201 of Gsa subunit on ovary and bone tissue that was experienced recently.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ovário
/
Osso e Ossos
/
Códon
/
DNA
/
Adenilil Ciclases
/
Reação em Cadeia da Polimerase
/
Proteínas de Ligação ao GTP
/
Mutação de Sentido Incorreto
/
Displasia Fibrosa Poliostótica
Idioma:
Coreano
Revista:
Journal of Korean Society of Endocrinology
Ano de publicação:
1999
Tipo de documento:
Artigo
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