Somatic trinucleotide change encompassing codons 882 and 883 of the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma.
Eur J Endocrinol
; 142(6): 573-5, 2000 Jun.
Article
en En
| MEDLINE
| ID: mdl-10822219
OBJECTIVE: Restriction analysis is a straightforward procedure for mutational analysis. It is commonly used for screening RET mutations. Incomplete digestion is a well-known cause of false results. Herein, we report another limitation of the method. DESIGN AND METHODS: Screening for somatic mutations in RET exons 16, 13 and 15 was performed in a patient with a sporadic medullary thyroid carcinoma. Genetic study was carried out by both restriction analysis and direct sequencing. RESULTS: A somatic trinucleotide change encompassing codons 882 and 883 of the RET proto-oncogene (GTA GCT to GTT TTT) was documented. Particular to this case is the silent mutation (GTA-->GTT) at codon 882. Independently, both the novel silent mutation and the missense mutation at codon 883 may disrupt the same AluI restriction site. Based on the restriction pattern we were able to say that both mutations occurred in the same allele. CONCLUSIONS: Restriction analysis is an easy approach for screening RET mutations; however, it is not enough to assign a final diagnosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Codón
/
Neoplasias de la Tiroides
/
Proteínas Proto-Oncogénicas
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Proteínas Tirosina Quinasas Receptoras
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Carcinoma Medular
/
Proteínas de Drosophila
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Eur J Endocrinol
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Portugal
Pais de publicación:
Reino Unido