표제지
Acknowledgement
목차
Abbreviations 9
국문요약 10
Ⅰ. 서론 12
Ⅱ. 실험재료 및 방법 17
Ⅱ.1. 대상 17
Ⅱ.2. 후보유전자 선정 17
Ⅱ.3. SNP 선정 및 유전형 검사 18
Ⅱ.4. 통계분석 20
Ⅲ. 결과 22
Ⅲ.1. Published genome screens for loci that predispose to ASD. 22
Ⅲ.2. Polymorphisms in four candidate genes. 22
Ⅲ.3. Association analysis of polymorphic SNPs. 22
Ⅲ.4. Linkage disequilibrium analysis. 23
Ⅲ.5. Haplotype association test with ASD. 24
Ⅳ/14. 고찰 25
Ⅴ. 결론 30
Reference 50
영문요약 52
Table 1. Four candidate genes on chromosome 7q32 31
Table 2. MFA and HWE test is the result for polymorphisms in MEST and COPG2 genes. 32
Table 3. Association analysis of polymorphic SNPs in MEST and COPG2 genes in ASD. 36
Table 4. Haplotype association in the MEST and COPG2 genes. 42
Figure 1. Published genome screens for loci that predispose to autism spectrum disorders. 44
Figure 2. Gene maps of four candidate gene on 7q32. 45
Figure 3. Linkage disequilibrium map four candidate genes on 7q32. 48
Figure 4. Haplotype and LD coefficient with MEST and COPG2 polymorphisms. 49