Identification and mapping of genes in the AD region on CH 15q11-13

S. J. Kim, M. M. Menold, L. Zaeem, M. P. Bass, J. M. Vance, M. A. Pericak-Vance, J. R. Gilbert

Research output: Contribution to journalArticlepeer-review


Chromosome 15q11-q13 is implicated in the genetic etiology of Autistic Disorder (AD) based on:1) cytogenetic abnormalities; 2) suggested linkage with chromosome 15 markers; 3) association with polymorphisms in the g-aminobutyric acid receptor subunit B3 gene (GABRB3); and 4) increased recombination frequency in this region in AD versus control families. To isolate the 15q11-q13 AD gene, a genomic contig and physical map of the 1-1.5 Mb region from the GABRB3 receptor to the OCA2 gene was generated. Not I and numerous Eag I restriction enzyme sites, frequently found in CpG islands associated with promoter and initiation sites at the 50 end of genes, were identified in this region. To begin identification of additional AD candidate genes within the contig, ten regions containing Not I and Eag I sites that have the characteristics of CpG islands have been cloned and sequenced. Sequence data has allowed the mapping of at least one known, but previously unmapped, gene to the region. The isolation of additional CpG islands is in progress. Putative coding sequences from islands are being tested using northern blots. These studies will identify and map candidate genes and allow the investigation of the methylation status of CpG islands in tissues.

Original languageEnglish (US)
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number4
StatePublished - Aug 7 2000

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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