Journal Article

Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation

P. Billuart, M. C. Vinet, V. des Portes, S. Llense, L. Richard, M. L. Moutard, D. Recan, T. Brüls, T. Bienvenu, A. Kahn, C. Beldjord and J. Chelly

in Human Molecular Genetics

Volume 5, issue 7, pages 977-979
Published in print July 1996 | ISSN: 0964-6906
Published online July 1996 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.7.977
Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation

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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.

Journal Article.  2101 words.  Illustrated.

Subjects: Genetics and Genomics

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