| Autor: |
Cebrián A; Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain., Herrera-Pombo JL, Díez JJ, Sánchez-Vilar O, Lara JI, Vázquez C, Picó A, Osorio A, Martínez-Delgado B, Benítez J, Robledo M |
| Jazyk: |
angličtina |
| Zdroj: |
European journal of human genetics : EJHG [Eur J Hum Genet] 1999 Jul; Vol. 7 (5), pp. 585-9. |
| DOI: |
10.1038/sj.ejhg.5200336 |
| Abstrakt: |
Multiple endocrine neoplasia type 1 (MEN 1) is characterised by the combination of tumours of the parathyroid, endocrine pancreas and anterior pituitary glands. In 1988 the MEN 1 gene was mapped to chromosome 11q13 and it was cloned in 1997. This gene contains 10 exons and extends across 9 Kb of genomic DNA; it encodes for a product of 610 amino acid named menin whose function is unknown. We have studied 10 unrelated MEN 1 kindreds by a complete sequencing analysis of the entire gene; mutations were identified in nine of them: five deletions, one insertion, two nonsense mutation and a complex alteration consisting of a deletion and an insertion that can be explained by a hairpin loop model. Two of the mutations have been previously described; the other seven were novel, and they were scattered throughout the coding sequence of the gene. As in previous series, no correlation was found between phenotype and genotype. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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