Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/14044
Uso de mapas de expresión génica para identificar genes candidatos de patrones clínicos morfogenéticos: Análisis de la Unidad de Desarrollo Acro-renal
Martínez-Frías, María Luisa ISCIII
Boletín del ECEMC: Rev Dismor Epidemiol 2008; V (nº 7): 2-9
Congenital anomalies of human morphology have been classified under two criteria: 1) according to a catalogue of affected organs and systems or, 2) the pathogenic relationship explaining the detected malformations. This second approach seems to be the adequate way to look for the causal mechanisms involved in the clinical manifestations of multiorganic congenital alterations: malformations, deformations and disruptions when organs are affected and dysplasia when tissues are affected (or combination of them). Sometimes a group of organs and tissues appear frequently affected in congenital anomalies suggesting that they could share regulatory processes and molecular mechanisms during embryonic development. Therefore, these organs are part of a morphogenetic field (developmental field). The way to discover molecular candidates to development field alteration is to explore correlations between anatomic alterations and gene expression patterns. To test the efficiency of this approach methodology we have analyzed gene expressions in an extensive expression data webpage: EUREXPress, where the expression of 14,000 mouse genes has been mapped at 14th days of embryonic development, genes showing multiorganic expression patterns coincident with the organic anomalies described in our data base for acro-renal syndrome. From 704 genes expressed in the footplate or kidney, 6 genes have a complex expression pattern covering most of the organs affected in acro-renal developmental field defect. Then, this approach identifies easily possible candidate genes for the acro-renal syndrome. Further basic and clinical analysis will be necessary to demonstrate the possible pathogenic relationship.
Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC
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