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The Human Secretin Gene in Children With Autistic Spectrum Disorder: Screening for Polymorphisms and Mutations

Institute of Molecular Biology, The University of Hong Kong

Billy K.C. Chow, PhD

Department of Zoology, The University of Hong Kong

Virginia C.N. Wong, MBBS, FHKAM, FHKC Paed, FRCPCH, FRCP (London, Edinburgh), DCH (London, Glasgow)

Division of Neurodevelopmental Paediatrics, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, vcnwong{at}hkucc.hku.hk

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. (J Child Neurol 2005;20:701—704).

Journal of Child Neurology, Vol. 20, No. 8, 701-704 (2005)
DOI: 10.1177/08830738050200081501


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