보고서 정보
주관연구기관 |
서울과학수사연구소 |
보고서유형 | 연차보고서 |
발행국가 | 대한민국 |
언어 |
한국어
|
발행년월 | 2015-11 |
과제시작연도 |
2015 |
주관부처 |
미래창조과학부 Ministry of Science, ICT and Future Planning |
과제관리전문기관 |
국립과학수사연구원 National Forensic Service |
등록번호 |
TRKO201600003686 |
과제고유번호 |
1315000750 |
사업명 |
중장기과학수사감정기법연구개발 |
DB 구축일자 |
2016-07-02
|
키워드 |
Y-STR.Y-SNP.SNP.haplotype.haplogroup.Full sibling.Half sibling.
|
DOI |
https://doi.org/10.23000/TRKO201600003686 |
초록
▼
연구결과
필요성 및 목표
○ 남성 DNA의 존재 여부 또는 동일부계 여부를 확인하기 위해서 사용되는 Y 염색체 STR로부터 용의자 특정에 도움을 주기 위해 인종 또는 민족을 추정할 수 있는 SNP 분석이 필요하며 이를 활용하기 위해 비교가능한 Y-SNP/STR의 표준 대조시료 DB를 구축하고자 함.
○ 기존의 STR 분석 기법으로 충분하지 않은 2촌 이상의 친족관계 분석을 위해 AccuID (SNP array) 기반 기술의 SNP 마커를 활용한 친족관계 분석법을 확립하고 분석에 관한 가이드라인을 제시하고자 함.
연구결과
필요성 및 목표
○ 남성 DNA의 존재 여부 또는 동일부계 여부를 확인하기 위해서 사용되는 Y 염색체 STR로부터 용의자 특정에 도움을 주기 위해 인종 또는 민족을 추정할 수 있는 SNP 분석이 필요하며 이를 활용하기 위해 비교가능한 Y-SNP/STR의 표준 대조시료 DB를 구축하고자 함.
○ 기존의 STR 분석 기법으로 충분하지 않은 2촌 이상의 친족관계 분석을 위해 AccuID (SNP array) 기반 기술의 SNP 마커를 활용한 친족관계 분석법을 확립하고 분석에 관한 가이드라인을 제시하고자 함.
방법 및 결과
○ 한국인 600명을 대상으로 29개의 Y-STR로 이루어진 haplotype 데이터와 최근에 제시된 phylogenetic tree에 따른 SNP로 결정된 haplogroup 정보가 연계된 표준 대조시료 DB를 구축하고 다형성 정도 및 연관관계를 분석함.
○ 22가계 87명의 SNP 분석을 통한 2촌 관계 검색 가능성 확인하였음.
기대성과
○ Y-SNP 분석법 설계 및 2촌 검색 등 비교 가능한 데이터베이스 구축
Abstract
▼
* The Korean Y chromosomal haplotype-haplogroup reference database and multiplex PCRs were constructed for analysis of paternal lineages and SNP assay based on AccuID (SNP array) was performed for further analysis of genetic relationships. Four multiplex PCRs followed by SBE reaction and two multipl
* The Korean Y chromosomal haplotype-haplogroup reference database and multiplex PCRs were constructed for analysis of paternal lineages and SNP assay based on AccuID (SNP array) was performed for further analysis of genetic relationships. Four multiplex PCRs followed by SBE reaction and two multiplex allele-specific PCR assays were developed for the identification of haplogroups in Koreans as well as haplogroups frequent in East Asians. In 615 Korean males, a total of 23 different haplogroups were identified by 33 Y-SNPs (M174, RPS4Y711, M89, M9, M231, M175, M119, P31, M122, P203, M119, PK4, M95, SRY465, F3356, 47z,L682, M217, L1373, Z1338, Z1300, F845, CTS2657, Z8440, M242), the most frequent haplogroup was O2b1b (22%). Twenty nine Y-STRs were analyzed using PowerPlex® Y23 System and AmpFlSTR® Yfiler Plus PCR Kit. In AMOVA analysis, DYS392, DYS393, DYS437, DYS438,DYS448 and DYS388 loci can preserve phylogenetic information by their relatively low mutation rates, and hence can be used to roughly distinguish Y-chromosome haplogroups.This high-resolution haplogroup and haplotype data will improve our understanding of the Korean population substructure and will also help to infer haplogroup background or common ancestry.
* Short Tandem Repeat (STRs), which have higher discrimination power and various commercial kits, are used for human identification and paternity test. The STRs has some limitation to apply for full and/or half sibling test because of discontinuity of heredity. To solve this limitation, haplotype analysis such as mitochondrial DNA sequencing and Y-STRs were used for full and/of half sibling test. However they are time-consuming and labor intensive work. Recently, Single Nucleotide Polymorphisms (SNPs) analysis is used for paternity test to compensate the limitation of STRs and haplotype analysis. SNPs show lower mutation rate and can analyze much more markers compared to STRs. Especially, SNPs has continuity of heredity to conduct for full sibling test. To validate SNPs for full and/or half sibling test, we have constructed SNPs database. SNPs database is made of 87 volunteers which are comprised of full and half sibling of 22 families. In this study, 169 SNP maker were analyze using AccuID DNA chip(DNA Link, korea).
As a result of the database search for full and half siblings, 82 pairs of all full siblings were included among retrieved 170 pairs, but for half sibling only 98 pairs out of 108 pairs of half siblings were included among 341 retrieved pairs, 10 half sibling pairs were missed.
From the test, it is deemed that half and more distant siblings could not be searched via SNP method and despite that all the full sibling pairs were retrieved in the test it also could not be considered that SNP marker is 100 percent valid for finding full sibling due to its small number of samples of 87. The validation of SNP analysis will be carried out with more samples.
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