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Updated: Aug 15, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
The human secretin gene in children with autistic spectrum disorder: screening for polymorphisms and mutations
Samuel S M Ng1, Billy K C Chow, Virginia C N Wong
1Institute of Molecular Biology, The University of Hong Kong, Hong Kong.
Abstract:
We screened 29 children with autism for mutation in the human secretin gene using single-strand conformation polymorphism. No mutation was detected in exon 2, 3, or 4. Polymerase chain reaction and DNA sequence of 5' variable number of tandem repeats showed two polymorphisms with deletion or duplication of a repeat unit that failed to show any gene expression with transient transfection assay. We did not find evidence of a relationship between human secretin gene mutation and autism.
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