A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

Article Abstract:

A two-stage genetic study is performed in which genomewide linkage and family-based association mapping is followed up by association and replication studies in an independent sample. It is concluded that a common variant in contactin-associated protein-like 2 (CNTNAP2) is associated with increased risk for autism in two independent family-based samples and exhibits a parent-of-origin bias.

United States, Risk factors, Genetic disorders, Genetic variation

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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Article Abstract:

Two complimentary approaches are described and used to identify risk variants on chromosome 7 that contribute to the etiology of autism. It provides convergent evidence on the involvement of Contactin Associated Protein-Like 2 (CNTNAP2), a Neurexin family member, in autism, and a link between genetic risk for autism and specific brain structures.

Diseases, Gene expression, Etiology (Medicine)

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Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues

Article Abstract:

The article discusses the McClintock mechanism and the molecular content and the mechanisms of origin of small supernumerary marker chromosomes (SMCs). The phenomenon involved in the formation of these SMCs is highly governed by the discussed McClintock mechanism of small-ring formation.

Usage, Genetic markers, Chromosomes, Structure

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