title: The human secretin gene in children with autistic spectrum disorder: screening for polymorphisms and mutations.
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.
authors.affiliation: Institute of Molecular Biology, The University of Hong Kong, Hong Kong.
authors.forename: Samuel S M
authors.initials: SS
authors.lastname: Ng
authors.forename: Billy K C
authors.initials: BK
authors.lastname: Chow
authors.forename: Virginia C N
authors.initials: VC
authors.lastname: Wong
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012633:Secretin / Q000235:genetics*
chemical_list: D012633:Secretin