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논문

미량 시료와 친자 분석에 대한 Insertion-Deletion polymorphisms(INDEL)의 적용 분석

원문정보

Applicability of Insertion-Deletion polymorphisms(INDEL) for low copy number samples and kinship analysis

성기민, 박지혜, 김주영, 조은혜, 강영은, 김은혜, 김양정, 강필원

피인용수 : 0(자료제공 : 네이버학술정보)

초록

영어

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

저자정보

  • 성기민 Ki Min Seong. 국립과학수사연구원 서울과학수사연구소 유전자분석과
  • 박지혜 Ji Hye Park. 국립과학수사연구원 법유전자과
  • 김주영 Joo Young Kim. 국립과학수사연구원 서울과학수사연구소 유전자분석과
  • 조은혜 Eun Hae Cho. 국립과학수사연구원 서울과학수사연구소 유전자분석과
  • 강영은 Young Eun Kang. 국립과학수사연구원 서울과학수사연구소 유전자분석과
  • 김은혜 Eun Hye Kim. 국립과학수사연구원 서울과학수사연구소 유전자분석과
  • 김양정 Yang Jung Kim. 국립과학수사연구원 서울과학수사연구소 유전자분석과
  • 강필원 Pil Won Kang. 국립과학수사연구원 서울과학수사연구소 유전자분석과

참고문헌

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