A linkage disequilibrium map of the 1-Mb 15q12 GABAA receptor subunit cluster and association to autism

Autism is a complex genetic neuropsychiatric condition characterized by deficits in social interaction and language and patterns of repetitive or stereotyped behaviors and restricted interests. Chromosome 15q11.2‐q13 is a candidate region for autism susceptibility based on observations of chromosoma...

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Bibliographic Details
Published in:American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2004-11, Vol.131B (1), p.51-59
Main Authors: McCauley, Jacob L., Olson, Lana M., Delahanty, Ryan, Amin, Taneem, Nurmi, Erika L., Organ, Edward L., Jacobs, Michelle M., Folstein, Susan E., Haines, Jonathan L., Sutcliffe, James S.
Format: Article
Language:English
Subjects:
association
autism
haplotype
linkage disequilibrium
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Summary:Autism is a complex genetic neuropsychiatric condition characterized by deficits in social interaction and language and patterns of repetitive or stereotyped behaviors and restricted interests. Chromosome 15q11.2‐q13 is a candidate region for autism susceptibility based on observations of chromosomal duplications in a small percentage of affected individuals and findings of linkage and association. We performed linkage disequilibrium (LD) mapping across a 1‐Mb interval containing a cluster of GABAA receptor subunit genes (GABRB3, GABRA5, and GABRG3) which are good positional and functional candidates. Intermarker LD was measured for 59 single nucleotide polymorphism (SNP) markers spanning this region, corresponding to an average marker spacing of 17.7 kb−1. We identified haplotype blocks, and characterized these blocks for common (>5%) haplotypes present in the study population. At this marker resolution, haplotype blocks comprise
ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.30038