Vnitr Lek 1996, 42(11):751-756

[Ret proto-oncogene mutation found in the Czech population and its predictive value for offspring of patients with medullary carcinoma of the thyroid gland].

I Mazura, J Vcelák, B Bendlová, M Neradilová, J Němec, P Stolba

Endokrinologický ústav, Praha.

The authors completed a total of 23 pedigrees with the clinical diagnosis of medullary thyroid carcinoma (5 MEN 2A pedigrees, 11 FMTC pedigrees and 7 MTC pedigrees). Using the method of polymerase chain reaction (PCR), it was possible to define the rate of the most frequent mutations in exons 10, 11 and 16 of Ret-protooncogene present in the Czech population. The most frequent hereditary mutation found in MEN 2A and FMTC groups is substitution of thymine for cytosine in position 2095 of the transmembranous domain of the Ret-tyrosine kinase gene. Another six types of known mutations were tested.

Keywords: Carcinoma, Medullary /diagnosis/; Chromosomes, Human, Pair 10 /genetics/; Czech Republic; Drosophila Proteins; Female; Genetic Markers; Humans; Male; Multiple Endocrine Neoplasia Type 2a /genetics/; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Proto-Oncogene Proteins /genetics/; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases /genetics/; Thyroid Neoplasms /diagnosis/

Published: November 1, 1996  Show citation