title: [Reverse genetics and prenatal diagnosis].
abstract: "Reverse" genetics is a research process consisting in finding the gene of a disease, then in "descending" toward the final product that it codes. This reasoning is the reverse of the one normally used which "ascends from the protein to the gene" and can be applied to the discovery of the pathogenic mechanism of a disease. There are numerous spin-offs of this new type of approach for prenatal diagnosis (PND). Thus, the discovery of polymorphic tracers surrounding the gene enables an indirect PND in informative families. Reliability is great if we have many probes at our disposal. Then, discovery of the gene itself permits a direct PND with the use of intragenic probes and synthetic oligonucleotides.
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA
vernacular_title: Réflexions sur la génétique "inverse" et le diagnostic anténatal.