미량 시료와 친자 분석에 대한 Insertion-Deletion polymorphisms(INDEL)의 적용 분석
Applicability of Insertion-Deletion polymorphisms(INDEL) for low copy number samples and kinship analysis
The typing of short tandem repeats (STR) is the most representative method for individual identification and paternity testing in the forensic field. Although STR-based typing performs well, its limitations (relatively high amplicon size, artifacts, mutation rates) have been well documented. The forensic community has recently focused on alternative and supplementary genetic markers: single nucleotide polymorphisms (SNP), insertion-deletion polymorphisms (INDEL), and mini-STR. SNP can be captured in smaller amplicons than STR and their mutation rates are orders of magnitude lower than that of STR. To date, complex approaches which are unwieldy and often not quantitative, have been sought. INDEL are widely distributed throughout the genome and have advantages in amplicon size, artifacts, and mutation rate in comparison with STR. Besides the analysis method of INDEL is based on size like STR and so can be readily analyzed using capillary electrophoresis. In spite of the indisputable advantages of INDEL, its application in routine forensic work remains rare. Several studies on INDEL have recently been published, and interest in this area has grown since the development of commercial kits. We recently reported polymorphisms of 30 INDEL markers using Investigator DIPplex kit in 373 unrelated Korean individuals and analyzed forensic efficiency parameters in order to evaluate forensic application of INDEL in the Korean population. Further, here we report the applicability of INDEL for low copy number samples (LCN) and kinship analysis. It seems that INDEL markers will be a supplementary tool for LCN samples and kinship analysis.
목차
Abstract I. 서론 II. 실험 방법 1. 시료 2. DNase I 반응 3. DNA 정량 4. PCR 증폭 (INDEL, STR) 5. 모세관 전기영동 및 결과 분석 III. 실험 결과 1. INDEL 분석의 미량 시료에 대한 적용 2. INDEL 분석을 이용한 친자 관계 분석 IV. 고찰 V. 참고문헌
법과학 분야는 사회정의 구현에 있어 크나큰 가치가 있음에도 불구하고 우리나라에서는 이 분야에 대한 인식이 미흡하여 선진 외국에 비해 침체되어 있는 실정이다. 이에 우리나라에서도 법과학 분야와 관련 있는 학계, 연구기관, 수사기관 등 유관 단체들로 구성된 한국 법과학회를 창립하여 이 분야를 활성화 시켜 과학수사를 한층 더 발전시키기 위함을 목적으로 한다.