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KMID : 0311120090500020304
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Yonsei Medical Journal
2009 Volume.50 No. 2 p.304 ~ p.306
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Microsatellite Marker in Gamma - Aminobutyric Acid - A Receptor Beta 3 Subunit Gene and Autism Spectrum Disorders in Korean Trios
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Yoo Han-Ik
Hong Jin-Pyo
Kim Bung-Nyun
Cho Soo-Churl
Chung Seock-Hoon
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Abstract
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This study aimed to identify the association between gamma-aminobutyric acid-A (GABA-A) receptor subunit β3 (GABRB3) gene and autism spectrum disorders (ASD) in Korea. Fifty-eight children with ASD [47 boys (81.0%), 5.5 ± 4.1 years old], 46 family trios, and 86 healthy control subjects [71 males (82.6%), 33.6 ± 9.3 years old] were recruited. Transmission disequilibrium test revealed that, 183 bp long allele in GABRB3 gene was preferentially transmitted in families with ASD (p = 0.025), whereas a population-based case-control study, however, showed no association between ASD and GABRB3 microsatellite polymorphism. Our data provide preliminary evidence that GABRB3 gene is associated with ASD in Korea.
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KEYWORD
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Autism spectrum disorders, genetics, transmission disequilibrium test, microsatellite, gamma-aminobutyric acid-A receptor subunit β3
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