http://www.cnr.it/ontology/cnr/individuo/prodotto/ID109973
Molecular analysis of MRX loci towards the identification of new disease genes involved in X linked mental retardation (XLMR) (Abstract/Poster in atti di convegno)
- Type
- Label
- Molecular analysis of MRX loci towards the identification of new disease genes involved in X linked mental retardation (XLMR) (Abstract/Poster in atti di convegno) (literal)
- Anno
- 2003-01-01T00:00:00+01:00 (literal)
- Alternative label
C. Laperuta, G. Fimiani, D. Esibizione, F. Cogliati, M. D?Urso, M.V. Ursini, M.G. Miano (2003)
Molecular analysis of MRX loci towards the identification of new disease genes involved in X linked mental retardation (XLMR)
in VI Congresso nazionale SIGU, Verona
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- C. Laperuta, G. Fimiani, D. Esibizione, F. Cogliati, M. D?Urso, M.V. Ursini, M.G. Miano (literal)
- Note
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- Isituto di Genetica e Biofisica Adriano Buzzati Traverso, CNR, Napoli (literal)
- Titolo
- Molecular analysis of MRX loci towards the identification of new disease genes involved in X linked mental retardation (XLMR) (literal)
- Abstract
- At present in no more than 10% of X-linked Mental Retardation (XLMR) cases the molecular defects is known suggesting the presence of other genes. We recently identified a new pericentromeric locus, MRX81, by linkage analysis in an Italian family with non specific X-linked Mental Retardation. Haplotype construction delineates a critical region of 8 cM in Xp11.2-Xq12 that overlaps with those defining other 21 MRX pericentromeric loci. MRX81 is the smallest disease interval so far described and represents an excellent starting point to isolate a new MR gene. Based on these findings, we are exploring the MRX81 region looking for new recombinants using additional STRs. In the main time, we are examining in detail the physical map of Xp11.2-Xq12 in order to verify the presence of new genes or transcripts exclusively or mainly expressed in brain. Some of the candidate genes have been already excluded by mutational analysis as causative of the disease while the screening of the remaining part is underway in our laboratory. To perform an accurate evaluation of potential MRX81 genes, for transcripts with an unknown expession profile during the development of brain, we are studying their murine counterparts. The Xq28 band is linked to MRX72 family, between DXS1073 and F8c. Upon our sequence data, we have establish that MRX72 haplotype has indeed larger critical interval roughly to 2 Mb. Mutational analysis has exclude some of candidate genes, such as GDI and MECP2. In order to restrict the haplotype diseases, despite the paucity of polymorphic markers, we are performing a systematic search of STRs and SNPs, in 1.6 Mb of distal Xq28. Using a computer assisted analysis of repeat elements content, we have selected several potential new STRs. QF-PCR fragments in DNA pools from CEPH
males are genotyped to establish the number of alleles and their frequencies. Based on this strategy, we are able to characterize new linkage markers to apply in the study of MRX72 and other Xq28 loci. (literal)
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