Positional cloning of a complex genetic illness: Autism

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International Journal of Development Research

Positional cloning of a complex genetic illness: Autism

Abstract: 

Positional cloning is the approach of choice for the identification of genetic mutations underlying the pathological development of complex genetic diseases like autism. Such genes can be identified using carriers of a chromosomal rearrangement which goes along with the sequencing of novel candidate genes. We report here the positional cloning of a reciprocal translocation associated with an autistic phenotype. We mapped the translocation breakpoints by fluorescence in situ hybridization (FISH). The characterization of the chromosomal breakpoints helped us to identify new candidate regions containing some novel candidate genes.

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