Your browser doesn't support javascript.
loading
Six novel MEN1 gene mutations in sporadic parathyroid tumors.
Cetani, F; Pardi, E; Giovannetti, A; Cerrai, P; Borsari, S; Vignali, E; Picone, A; Cianferotti, L; Miccoli, P; Pinchera, A; Marcocci, C.
Afiliación
  • Cetani F; Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina del Lavoro, Università di Pisa, Pisa, Italy.
Hum Mutat ; 16(5): 445, 2000 Nov.
Article en En | MEDLINE | ID: mdl-11058905
We report nine mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in sporadic parathyroid adenomas. Six of them have not previously been described: E60X, P32R, 261delA, 934+2T-->G, S443P, and 1593insC. The tissue samples were initially submitted to LOH analysis at 11q13 followed by SSCP screening of LOH-positive samples. Mutations were identified by direct sequencing and subcloning. Three (E60X, P32R, and 261delA) were in exon 2, one (934+2bp) in the splice junction of exon 5, one (S443P) in exon 9, and one (1593insC) in exon 10. The 3 mutations in exon 2 were associated with loss and/or creation of a restriction site. The corresponding germline sequence of the MEN1 gene was normal. Most mutations would likely result in a nonfunctional menin protein, and therefore in the loss of a tumor suppressor protein.
Asunto(s)
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de las Paratiroides / Proteínas Proto-Oncogénicas / Neoplasia Endocrina Múltiple Tipo 1 / Mutación Límite: Aged / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2000 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de las Paratiroides / Proteínas Proto-Oncogénicas / Neoplasia Endocrina Múltiple Tipo 1 / Mutación Límite: Aged / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2000 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos