Genetic Diagnosis of Multiple Endocrine Neoplasia Type-1 (MEN-1)
Date Issued
2008
Date
2008
Author(s)
Chen, Fu-Jen
Abstract
Abstractbjective: Multiple Endocrine Neoplasia Type 1 (MEN1) is a syndrome of endocrine tumor, including parathyroid tumor, entero-pancreatic tumor, and pituitary endocrine tumor. It’s inheritance is autosomal dominant and controlled by the MEN1 gene which was located at chromosome 11q13. Recently, there was one study on the genes of MEN1 patients in Taiwan. This study aimed to exam the DNA sequence of MEN-1 gene in one patient to investigate whether mutations in MEN-1 is responsible for the phenotypes.esign: A patient we chosed had parathyroid tumor and pituitary tumor. We examined the sequence of MEN-1 gene by genomic DNA sequencing. The patient’s clinical symptoms, signs and her pedigree should be also taken into consideration. These results were compared with the previous finding about MEN1 in Taiwan.esults: No mutation was found in exons2~10. Nonetheless, at the70th ~ 72th base pair, the exon9 was found with two inherited codons—GAT and GAC respectively. Both codons encode amino-acid: aspirate. This is not considered a mutation. Moreover, at the level of DNA, we may refer it as polymorphism. onclusion: Although the research result is negative, according to literature review, there were 25% of gene test of the MEN1 patients found negative. The group of non-MEN1 gene mutation with gene test negative is maybe attributed to MEN-like syndrome (MENX). The mechanism of MEN-like syndrome (MENX) was understood gradually. This will be one direction for futher investigation.
Subjects
Multiple Endocrine Neoplasia Type 1 (MEN1)
parathyroid tumor
entero-pancreatic tumor
and pituitary endocrine tumor
MEN1 gene
chromosome 11q13
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