A genomic screen of autism: evidence for a multilocus etiology
Article Abstract:
A genomic screen of autism, the most severe of the pervasive developmental disorders, carried out using linkage analysis in 90 multiplex sibships with parents, for 98 independent affected sib pairs (ASPs), with follow-up in 49 other multiplex sibships with 50 ASPs is discussed, and evidence for a multilocus etiology is presented. Unaffected sibs were part of the analysis as well, and it was found that positional cloning of susceptibility loci by linkage analysis may be a very daunting task, so other approaches may be required.
author: Spiker, Donna, Pingree, Carmen, Petersen, P. Brent, Kraemer, Helena C., Risch, Neil, Myers, Richard M., Cavalli-Sforza, L. Luca, Hallmayer, Joachim, Kalaydjieva, Luba, Lotspeich, Linda, Nouri, Nassim, Hinds, David, McCague, Patty, Dimiceli, Sue, Pitts, Tawna, Nguyen, Loan, Yang, Joan, Harper, Courtney, Thorpe, Danielle, Vermeer, Saritha, Young, Helena, Hebert, Joan, Lin, Alice, Ferguson, Joan, Chiotti, Carla, Wiese-Slater, Susan, Rogers, Tamara, Salmon, Boyd, Nicholas, Peter, McMahon, William, Wong, Dona L.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Australia, Statistical Data Included, Usage, Chromosome mapping
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
Article Abstract:
Linkage-disequilibrium analysis of autistic disorder has pointed to marker GABRB3 155CA-2 (MTDT 28.63, 10 df, P = .0014) in the 15q11-13 region as a positional and functional candidate. GABRB3 is a gamma-aminobutyric acid (subA) receptor subunit gene. The region 15q11-13 is also critical for Prader-Willi/Angelman syndrome. The study involved 138 families, primarily composed of one child with autistic disorder and parents.
author: Cook, Edwin H., Jr., Cox, Nancy J., Courchesne, Eric, Lord, Catherine, Lincoln, Alan, Leventhal, Bennett L., Courchesne, Rachel Y., Gonen, David, Guter, Stephen J., Nix, Kristi, Haas, Richard
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
GABA
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
Article Abstract:
A two-stage genetic study is performed in which genomewide linkage and family-based association mapping is followed up by association and replication studies in an independent sample. It is concluded that a common variant in contactin-associated protein-like 2 (CNTNAP2) is associated with increased risk for autism in two independent family-based samples and exhibits a parent-of-origin bias.
author: Cook, Edwin H., Jr., Chakravarti, Aravinda, Teslovich, Tanya M., Shin Lin, Cutler, David J., Arking, Dan E., Brune, Camille W., West, Kristen, Ikeda, Morna, Rea, Alexis, Guy, Moltu
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Science & research, Risk factors, Genetic variation
subjects list: Research, United States, Genetic aspects, Autism, Genetic disorders
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