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Updated: Oct 24, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in
A L Sertié1, C Brahe, M R Passos-Bueno
1Departamento de Biologia, Universidade de São Paulo, Brazil.
Abstract:
We amplified 305bp of the 3'UT region of COL18A1 from 62 healthy chromosomes from Caucasian individuals. SSCP analysis of these PCR products allowed us to identify 3 alleles which were confirmed through sequencing analysis and ASO. The heterozigosity found for this polymorphic region is 74.2%, and mendelian inheritance was demonstrated in 5 two/three generation families. This polymorphism, located in a region relatively devoid of microsatellites, will be very useful for linkage analysis, particularly for narrowing down candidate regions for genes mapped in this area.
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