Biomedical Science and Research Journals | Multiple Endocrine Neoplasia Type 2B Due to the M918T Mutation de Novo at Algiers
Multiple Endocrine Neoplasia Type 2B Due to the M918T Mutation de Novo at Algiers Summary Multiple Endocrine Neoplasia type2B (MEN2B) associates Medullar Thyroid Cancer (MTC), pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuroma. The MEN2B belongs MEN2 which are hereditary diseases related to mutations of RET proto-oncogene. Genotypic analysis is indicated in any case MEN2B and involved the detection of mutations in the RET gene. Samples of two patients aged 23, 22 and 20 years of 03 different families diagnosed MEN2B were analyzed. The genetics analysis also covers 10 members of the 03 families. It was realized, after DNA extraction from whole blood by the method to salts, by amplification of exons by PCR followed by sequencing on Applied Biosystems ABI 3130 and concerned the exons 15 and 16. Germline mutation M918T, located at exon 16 in heterozygous form, was found in the 03 index cases MEN2B. The discovery of this mutation, highly spe