Abstract ▼

The recent trend of the study for human disease through the human genetic epidemiology is full-length genome association analysis targeted to the White in Europe and the United State. It has been known that the differences of allele frequency and LD structure between population proups are attribut

The recent trend of the study for human disease through the human genetic epidemiology is full-length genome association analysis targeted to the White in Europe and the United State. It has been known that the differences of allele frequency and LD structure between population proups are attributable to race-specific genetic factors, therefore it is necessary to discover the potential disease-specific genetic variation of Koreans. There are also necessity to discover the genetic factors for addictive diseases of life and health indicators using the technology of whole-genome analysis and samples secured from the Korean Genome Epidemiology Project.
A Total of 4,750 samples including patients of polycystic ovary syndrome and control women are received from the Korean National Institutes of Health. Samples, which pass the QC test, were used for the genotyping and the genotypes of 1,011,860 SNPs were obtained by using Illumina HumanOmnil chip and Infinium II assay. Total of 4,703 among 4,750 samples were successfully genotyped, and the average call rate was 99.8%. The average minor allele frequency(MAF) was 0.177, and MAFs of 728,671 SNPs corresponding to 72.0% was over 0.02 Hardy-Weinberg Equlilibrium(HWE) test showed mederate HWE in 95.6% among 985,472 SNPs, and the copy neurtal LOH and copy gain were observed some samples by chromosome aberration analysis. The genotype data is extracted as e-files and submit it.
96 candidate SNPs were selected based on the Illumina HumanOmnil chip data, and the replication study was performed in 4,750 subjects. Illumina veracode technology and GoldenGate assay were used for validation genotyping, and 90 of 96 SNP were successfully genotyped. The average call rate was 99.9%. The validation genotype date is extracted as e-files and submit it.

목차 Contents

• 학술연구용역사업 최종결과보고서 ... 1
• 목차 ... 2
• 그림 목차 ... 3
• 최종결과보고서 요약문 ... 4
• Summary ... 5
• 학술연구용역사업 연구결과 ... 6
• 제1장 최종 연구개발 목표 ... 6
• 제1절 목표 ... 6
• 1. 목표 ... 6
• 2. 연구의 목적 및 필요성 ... 6
• 제2절 목표달성도 ... 7
• 제3절 국내ㆍ외 기술개발 현황 ... 7
• 제2장 최종 연구개발 내용 및 방법 ... 8
• 제1절 연구개발 내용 ... 8
• 1. 시료의 유전체 정보생산 및 결과분석 ... 8
• 2. SNP 칩 실험결과 생산된 데이터의 정도관리, 기본 통계분석 및 데이터 정리 ... 9
• 3. 검증 연구 수행 ... 10
• 제2절 추진방법 ... 11
• 1. Picogreen(DNA specific fluorescence dye)을 이용한 정밀한 DNA 농도 측정 ... 11
• 2. Infinium II Assay ... 11
• 3. iScan을 이용한 Chip scanning ... 12
• 4. Genetic and Statistical analysis ... 12
• 5. Veracode technology 및 GoldenGate assay를 통한 검증 ... 14
• 제3장 최종 연구개발 결과 ... 16
• 제1절 시료의 입고 ... 16
• 제2절 Genome-wide scanning ... 16
• 1. Genotyping 결과 및 call rate ... 16
• 2. Allele frequence 및 chromosome aberration ... 19
• 3. Chi genotype 결과의 보고 ... 22
• 제3절 검증 genotyping ... 24
• 1. 검증 genotyping을 위한 SNP의 선별 ... 24
• 2. 검증 genotyping 결과 ... 24
• 제4장 연구결과 고찰 및 결론 ... 28
• 제5장 연구성과 ... 29
• 5.1 활용성과 ... 29
• 5.2 활용계획 ... 30
• 제6장 참고문헌 ... 31
• 제7장 첨부서류 ... 33
• 2010 질병관리본부 학술연구용역사업 최종결과 평가의견서 ... 34
• 끝페이지 ... 34