Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation
| Autor: | Jamel Chelly, L. Richard, Stéphane Llense, V. des Portes, Cherif Beldjord, Axel Kahn, Pierre Billuart, T. Brüls, Marie-Laure Moutard, Thierry Bienvenu, D. Recan, M C Vinet |
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| Rok vydání: | 1996 |
| Předmět: |
Genetic Markers
Male X Chromosome Genetic Linkage Locus (genetics) Biology Polymerase Chain Reaction Sequence-tagged site Gene mapping Genetic linkage Intellectual Disability Genetics medicine Humans Child Molecular Biology Genetics (clinical) X chromosome Sequence Tagged Sites Genetic heterogeneity Chromosome Mapping General Medicine DNA medicine.disease Fragile X syndrome genomic DNA Chromosome Deletion |
| Zdroj: | Human molecular genetics. 5(7) |
| ISSN: | 0964-6906 |
| Popis: | X-linked non-specific mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation. The genetic and phenotypic heterogeneity exclude any possibility of pooling families and, therefore, of fine-mapping the related disease genes. In order to identify genomic critical regions involved in the MRX condition assigned to Xp21.3-22.1 region, we have implemented the PCR screening of non fragile X MR patients for the presence of deletions in this region. The amplification by PCR of 12 markers located between POLA and DXS704 using genomic DNA from 192 MR males led to the identification, in a 9 year old mentally retarded boy, of a microdeletion which extends from DXS1202 to DXS1065. None of the known genes, POLA, MAGE genes cluster, DAX1, GK and DMD, that map in the Xp21.3-22.1 region is affected by this deletion. This approach, which could easily be applied to several other MRX loci, allowed not only a confirmation of the presence of a potential locus in Xp21.3-22.1 involved in non-specific mental retardation, but also a better definition of the genomic critical region corresponding to this locus. |
| Databáze: | OpenAIRE |
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