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Improvement of the Discrimination Capacity through the Expansion of Y Chromosomal STR Markers
Biomed Sci Letters 2023;29:302-313
Published online December 31, 2023;  https://doi.org/10.15616/BSL.2023.29.4.302
© 2023 The Korean Society For Biomedical Laboratory Sciences.

Dong Gyu Lee1,2,*, So Eun Lee2,**, Ji Hwan Park1,*, Si-Keun Lim2,†,*** and Ju Yeon Jung3,†,*

1Forensic DNA Division, National Forensic Service, Wonju-si, Gangwon-do 26460, Korea
2Department of Forensic Sciences, Sungkyunkwan University, Suwon-si, Gyeonggi-do 16419, Korea
3Forensic DNA Section, National Forensic Service Jeju Branch, Jeju-si, Jeju-do 63309, Korea
Correspondence to: Ju Yeon Jung. Forensic DNA Section, National Forensic Service Jeju Branch, 221, Cheomdan-ro, Jeju-si, Jeju-do 63309, Korea.
Tel: +82-64-795-3820, Fax: +82-64-795-3809, e-mail: jjy7@korea.kr
Si-Keun Lim. Department of Forensic Sciences, Sungkyunkwan University, 2066, Seobu-ro, Jangan-gu, Suwon-si, Gyeonggi-do 16419, Korea.
Tel: +82-31-290-5670, e-mail: sikeun.lim@skku.edu
*Researcher, **Graduate student, ***Professor.
Received October 4, 2023; Revised October 25, 2023; Accepted November 1, 2023.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
 Abstract
Y chromosomal short tandem repeat (Y-STR) markers have been developed continuously to complement forensic DNA analyses and population genetic studies. Initially, we collected data from previously reported Korean population Y-STR haplotype studies on 1133 individuals. We then conducted a marker expansion analysis using a dataset from the Y-STR Haplotype Reference Database (YHRD), covering up to 29 Y-STRs, referred to as Ymax. Additionally, we examined the impact of rapidly mutating (RM) Y-STRs included in this expanded marker set on the discrimination capacity. We observed that marker expansions both with (0.9896), and without (0.9510), RM Y-STR improved the discrimination capacity. Subsequently, we focused on 16 individuals belonging to seven distinct groups sharing identical haplotypes. These particular haplotypes had been previously identified among 476 unrelated males using 23 Y-STR markers from the PowerPlex® Y23 System. We expanded the marker panel up to Ymax to explore how discrimination improved with an expansion of Y-STR markers for these 16 individuals. Among the expanded markers, DYS627, which had high discriminatory power, had a high mutation rate (1.10 × 10-2) and high gene diversity (0.83). In contrast, DYF387S1 displayed high gene diversity (0.95) but a relatively low mutation rate (2.80 × 10-3). We propose that these findings will be valuable in the selection of suitable Y-STR markers, depending on the objectives of forensic analyses. Additionally, the presence of frequently observed Y-haplotypes in Korean population will facilitate statistical interpretation in Y-STR DNA profiling.
Keywords : Y chromosomal short tandem repeat (Y-STR), Haplotype, Marker expansion, Gene diversity, Mutation rate, Discrimination capacity
꽌 濡

Y 뿼깋泥 吏㏃뿰뇙諛섎났(Y chromosomal short tandem repeat, 씠븯 Y-STR) 踰붿즲쁽옣 利앷굅臾 遺꾩꽍, 遺怨 삁넻 遺꾩꽍 벑뿉 꼸由 솢슜릺怨 엳떎. 듅엳 꽦踰붿즲 궗嫄댁쓽 샎빀 떆猷 遺꾩꽍뿉꽌 냼웾쓽 궓꽦 DNA 삎씠 뿬꽦 DNA 삎뿉 媛由ъ뼱졇(masking effect) 寃異쒕릺吏 븡뒗 寃쎌슦 쑀슜븯寃 솢슜릺뒗 遺꾩꽍踰뺤씠떎(Lee et al., 2015; Cho et al., 2016). 삉븳 Y-STR 留덉빱뱾 Y 뿼깋泥 긽뿉꽌 옱議고빀씠 嫄곗쓽 씪뼱굹吏 븡뒗 遺쐞뿉 냽븯뿬 룎뿰蹂씠媛 諛쒖깮븯吏 븡쓣 寃쎌슦 꽭 臾닿븯寃 룞씪븳 븯뵆濡쒗엯(haplotype)씠 쑀쟾맂떎(Yang et al., 2012). 뵲씪꽌 룞씪遺怨 뿬遺瑜 遺꾩꽍븷 븣 솢슜릺硫(Lee et al., 2014), 遺꾩꽍맂 븯뵆濡쒓렇猷(haplogroup) 씤醫낃낵 씤援 吏묐떒쓽 씠룞異붿젙 벑뿉 궗슜맆 닔 엳떎(Zhang et al., 2012). 씠윭븳 Y-STR 봽濡쒗븘쓣 씠슜븳 踰뺢낵븰쟻 빐꽍쓽 젙솗꽦怨 떊猶곗꽦쓣 뼢긽떆궎湲 쐞빐꽌 넻怨꾩쟻 怨꾩궛씠 以묒슂븯떎. 삁뿰 愿怨꾧 뾾뒗 빐떦 씤援 吏묐떒뿉꽌 듅젙 븯뵆濡쒗엯씠 뼹留덈굹 愿李곕릺뒗吏 鍮덈룄 議곗궗 꽭 媛꾩쓽 룎뿰蹂씠쑉 痢≪젙 벑 넻怨꾩쟻 뿰援ш 븘슂븯떎(Park et al., 2007; Yang et al., 2012).

븳援씤 吏묐떒쓣 긽쑝濡 븳 Y-STR 븯뵆濡쒗엯怨 룎뿰蹂씠쑉 뿰援ш 吏냽쟻쑝濡 蹂닿퀬릺뿀떎(Park et al., 2005; Lee et al., 2007; Yoo et al., 2014; Oh et al., 2015; Jung et al., 2016). 理쒓렐 蹂닿퀬맂 꽑뻾 뿰援ъ뿉꽌룄(Lee et al., 2023), 620 뙇쓽 遺볦옄 떆猷뚮 씠슜븳 룎뿰蹂씠 뿰援ъ 꽌濡 뿰愿 뾾뒗 476紐낆쓣 긽쑝濡 PowerPlex Y23 System (Promega, Madison, WI, USA)뿉 룷븿맂 23媛쒖쓽 Y-STR 留덉빱瑜 湲곗쑝濡 븯뵆濡쒗엯 遺꾩꽍씠 닔뻾릺뿀떎. 洹 寃곌낵 꽌濡 뿰愿씠 뾾뒗 긽 궡뿉꽌 몢 紐 씠긽씠 룞씪븳 븯뵆濡쒗엯쓣 媛吏뒗 궗濡뱾씠 諛쒓껄릺뿀떎. 씠 궗濡瑜 諛뷀깢쑝濡, 蹂 뿰援ъ뿉꽌뒗 룞씪븳 븯뵆濡쒗엯쓣 媛吏 16紐낆쓣 긽쑝濡 Y-STR 留덉빱 닔瑜 利앷떆궡(留덉빱 솗옣)쑝濡쒖뜥 떇蹂꾨젰씠 뼱뼸寃 뼢긽릺뒗吏 遺꾩꽍븯떎. 뜑遺덉뼱, 씠쟾뿉 蹂닿퀬맂 븳援씤 吏묐떒 Y-STR 븯뵆濡쒗엯 뿰援 뜲씠꽣濡쒕꽣 理쒕 1,133紐낆쓣 긽쑝濡 留덉빱 솗옣뿉 쓽븳 떇蹂꾨젰쓽 蹂솕瑜 遺꾩꽍븯怨, 븳援씤뿉寃 留롮씠 굹굹뒗 븯뵆濡쒗엯쓣 젣떆븯떎.

蹂 뿰援ъ뿉꽌 솗옣릺뒗 留덉빱뿉 룷븿맂 rapidly mutating (RM) Y-STR씠 떇蹂꾨젰 蹂솕뿉 뼱뼚븳 쁺뼢쓣 誘몄튂뒗吏 遺꾩꽍븯떎. PowerPlex Y23 System (Promega)뿉 룷븿맂 DYS570怨 DYS576, 洹몃━怨 YfilerTM Plus PCR Amplification Kit (Applied Biosystems, Foster City, CA)뿉 룷븿맂 5媛쒖쓽 留덉빱(DYS449, DYS518, DYS627, DYF387S1)뒗 룎뿰蹂씠쑉씠 넂 RM Y-STR 留덉빱濡 븣젮졇 엳떎(Ralf et al., 2020). RM Y-STR 넂 룎뿰蹂씠쑉 븣臾몄뿉 遺꾩꽍 紐⑹쟻뿉 뵲씪 궗슜븯뒗뜲 옣떒젏씠 엳떎(Henry et al., 2015). 쁽옣利앷굅臾 遺꾩꽍뿉꽌쓽 쟻슜뿉 엳뼱꽌 Y-STR쓽 븳怨꾨뒗 踰붿즲쁽옣뿉꽌 寃異쒕맂 Y-STR DNA 삎씠 뵾쓽옄 룞씪븯뜑씪룄, 씠뒗 뵾쓽옄쓽 遺怨 移쒖”怨쇰룄 룞씪븷 媛뒫꽦씠 엳떎뒗 寃껋씠떎. 씠븣 RM Y-STR쓣 궗슜븯寃 맂떎硫 諛젒븯寃 뿰愿맂 궓꽦 媛꾩쓽 떇蹂꾨룄 媛뒫븷 닔 엳떎(Henry et al., 2015; Turrina et al., 2016; Ralf et al., 2020). 諛섎㈃, 遺덉긽蹂궗옄 諛 웾옱궃씗깮옄 떊썝솗씤怨 媛숈씠 遺怨 移쒖” 媛꾩쓽 븯뵆濡쒗엯 鍮꾧탳瑜 넻빐 깮臾쇳븰쟻 媛議 愿怨꾨 遺꾩꽍븯뒗 寃쎌슦, RM Y-STR쓣 룷븿븯뒗 Y-STR 븯뵆濡쒗엯 遺꾩꽍 슦룄鍮꾧 궙븘吏嫄곕굹 移쒖”엫뿉룄 遺덇뎄븯怨 옒紐삳맂 諛곗젣媛 諛쒖깮븷 닔 엳뼱 궗슜뿉 쟻젅븯吏 븡쓣 닔 엳떎(Henry et al., 2015; Ambers et al., 2018).

뵲씪꽌 蹂 뿰援щ뒗 꽑뻾 뿰援щ 룷븿븳 븳援씤 吏묐떒 궡 Y-STR 留덉빱쓽 吏묐떒쑀쟾븰쟻 닔移(gene diversity 諛 룎뿰蹂씠쑉) 븳援씤뿉寃 留롮씠 愿李곕릺뒗 Y-STR 븯뵆濡쒗엯 젣떆瑜 넻빐, 踰뺢낵븰쟻 遺꾩꽍 紐⑹쟻뿉 뵲瑜 留덉빱쓽 쟻젅븳 꽑蹂꾩뿉 룄쓣 二쇨퀬, Y-STR쓽 넻怨꾩쟻 湲곗큹옄猷뚮줈꽌 DNA 媛먯떇쓽 빐꽍 젙솗꽦怨 떊猶곗꽦쓣 넂씠뒗뜲 룄쓣 以 寃껋씠떎.

옱猷 諛 諛⑸쾿

븳援씤 吏묐떒 븯뵆濡쒗엯 닔吏

蹂 뿰援ъ뿉꽌뒗 2007뀈 Lee 벑 (Lee et al., 2007), 2015뀈 Oh 벑 (Oh et al., 2015)뿉 쓽빐 蹂닿퀬맂 351紐낆쓽 Y-STR 븯뵆濡쒗엯, 2016뀈 Jung 벑 (Jung et al., 2016)뿉 쓽빐 遺꾩꽍맂 306紐낃낵 2023뀈 Lee 벑 (Lee et al., 2023)뿉 쓽빐 遺꾩꽍맂 476紐낆쓽 Y-STR 븯뵆濡쒗엯쓣 닔吏묓븯뿬 珥 1,133媛쒖쓽 Y-STR 븯뵆濡쒗엯쓣 솗蹂댄븯뿬 Y-STR 遺꾩꽍 留덉빱쓽 솗옣뿉 뵲씪 떇蹂꾨젰씠 뼹留덈굹 뼢긽릺뿀뒗吏 遺꾩꽍븯떎.

遺꾩꽍 移댄뀒怨좊━ 꽕젙

留덉빱 솗옣 몴쟻씤 쎒 湲곕컲 Y-STR 븯뵆濡쒗엯 뜲씠꽣踰좎씠뒪 Y-STR haplotype reference database (YHRD; https://yhrd.org)뿉 議댁옱븯뒗 뜲씠꽣꽭듃瑜 湲곗쑝濡 遺꾩꽍븯떎. YHRD쓽 뜲씠꽣꽭듃뒗 Y-STR 긽슜솕 궎듃쓽 蹂솕뿉 뵲씪 궎듃瑜 援ъ꽦븯뒗 留덉빱 닔媛 利앷븿쓣 諛섏쁺븯뿬 Y-STR 궎듃 諛 留덉빱 닔瑜 湲곗쑝濡 援ъ꽦릺뼱 엳떎. 理쒖냼 9媛쒖쓽 留덉빱濡 援ъ꽦맂 minimal 븯뵆濡쒗엯遺꽣 PowerPlex Y System (Promega, Madison, WI, USA)쓽 12媛 留덉빱濡 援ъ꽦맂 Y12; AmpFLSTRTM YfilerTM PCR Amplification Kit (Applied Biosystems, Foster City, CA)쓽 Y17; PowerPlex Y23 System (PPY23, Promega)쓽 Y23; YfilerTM Plus PCR Amplification Kit (Yfiler Plus, Applied Biosystems)쓽 Y27; 몴쟻씤 긽슜솕 궎듃쓽 留덉빱瑜 넻빀븳 29媛 留덉빱濡 援ъ꽦맂 Ymax源뚯 寃깋씠 媛뒫븯떎. 씠瑜 李멸퀬븯뿬 Table 1怨 媛숈씠 移댄뀒怨좊━(minimal, Y12, Y17, Y21, Y21(RM), Y22, Y23, Y27(1), Y27(2), Ymax)瑜 遺꾨쪟븯怨, 理쒖냼 9媛쒖쓽 留덉빱(minimal)遺꽣 理쒕 29媛쒖쓽 留덉빱(Ymax)源뚯 遺꾩꽍쓣 닔뻾븯떎. Y27(1) Investigator Argus Y-28 QS (QSY-28, Qiagen, Hilden, Germany)쓽 27媛 留덉빱瑜 쓽誘명븯硫, Y27(2)뒗 Yfiler Plus쓽 27媛 留덉빱瑜 쓽誘명븳떎. QSY-28 5媛(DYS570, DYS576, DYS449, DYS518, DYS627)쓽 RM Y-STRs瑜 룷븿븯怨, Yfiler Plus뒗 븵꽌 뼵湲됲븳 5媛쒖쓽 RM Y-STRs뿉 DYF387S1쓣 異붽濡 룷븿븯뒗 떊 non RM Y-STR씤 DYS549 DYS643씠 룷븿릺吏 븡뒗 듅吏뺤쓣 媛吏꾨떎. Y21(RM) Y23, Y27(1), Y27(2) 궎듃쓽 怨듯넻맂 留덉빱 21媛쒕 쓽誘명븳떎. Y21 PPY23뿉 룷븿맂 21媛쒖쓽 non RM Y-STRs쓣 쓽誘명븯怨, Y22뒗 QSY-28뿉 룷븿맂 22媛쒖쓽 non RM Y-STRs쓣 쓽誘명븳떎.

Expansion of Y-STRs with and without RM Y-STR

Locus Expansion with RM Y-STR Expansion without RM Y-STR
Y21(RM)1) Y23 Y27(1) Y27(2) Ymax Minimal Y12 Y17 Y212) Y223)
Powerplex Y23 Argus Y-28 QS Yfiler Plus Powerplex Y Yfiler
n=1133 n=1133 n=673 n=673 n=673 n=1133 n=1133 n=1133 n=1133 n=673
DYS19
DYS389 I
DYS389 II
DYS390
DYS391
DYS392
DYS393
DYS385a/b*
DYS437 -
DYS438 -
DYS439 -
DYS448 - -
DYS456 - -
DYS458 - -
DYS635 - -
YGATAH4 - -
DYS481 - - -
DYS533 - - -
DYS570 - - - - -
DYS576 - - - - -
DYS549 - - - - -
DYS643 - - - - -
DYS449 - - - - - - -
DYS460 - - - - - -
DYS518 - - - - - - -
DYS627 - - - - - - -
DYF387S1a/b*, - - - - - - - -

1) Common loci of Y23, Y27(1) and Y27(2)

2) Loci except RM Y-STR in PPY23 kit

3) Loci except RM Y-STR in QSY-28 kit

*Duplicated loci are counted twice as they provide two alleles

RM Y-STR



移댄뀒怨좊━蹂 遺꾩꽍 떆猷

Table 1뿉꽌 媛 移댄뀒怨좊━蹂꾨줈 遺꾩꽍 떆猷뚯쓽 닔瑜 젣떆븯떎. RM Y-STR쓣 룷븿븳 留덉빱 솗옣 遺꾩꽍뿉꽌 Y23源뚯뒗 痍⑦빀븳 珥 1,133媛쒖쓽 븯뵆濡쒗엯쓣 遺꾩꽍븯떎. 씠썑 Ymax源뚯 遺꾩꽍 2007뀈 Lee 벑 (Lee et al., 2007), 2015뀈 Oh 벑 (Oh et al., 2015)뿉 쓽빐 蹂닿퀬맂 351紐낆쓽 븯뵆濡쒗엯, 2016뀈 Jung 벑 (Jung et al., 2016)뿉 쓽빐 遺꾩꽍맂 306紐낆쓽 븯뵆濡쒗엯怨 2023뀈 Lee 벑 (Lee et al., 2023)뿉 쓽빐 遺꾩꽍맂 16紐낆쓽 븯뵆濡쒗엯 뜲씠꽣瑜 닔吏묓븯뿬 珥 673紐낆쓽 븯뵆濡쒗엯쓣 遺꾩꽍븯떎. 2023뀈 Lee 벑 (Lee et al., 2023)뿉 쓽빐 遺꾩꽍맂 16紐낆쓽 븯뵆濡쒗엯 뜲씠꽣뒗 2紐 씠긽씠 룞씪븳 Y23 븯뵆濡쒗엯쓣 怨듭쑀븳 떆猷뚮쭔쓣 꽑蹂꾪븳 寃껋씠떎.

留덉빱 솗옣뿉 뵲瑜 떇蹂꾨젰 蹂솕 遺꾩꽍

뜲씠꽣꽭듃쓽 留덉빱媛 솗옣맆닔濡 haplotype diversity (HD) discrimination capacity (DC) 媛믪쓽 蹂솕瑜 愿李고븯떎. Nei媛 젣떆븳 諛⑸쾿뿉 뵲씪 HD = n(1-튜pi2)/n-1쑝濡 怨꾩궛븯쑝硫, 뿬湲곗꽌 n population size씠怨 pi뒗 haplotype frequency瑜 굹궦떎. 삉븳 DC = h/n쑝濡 怨꾩궛븯쑝硫, 뿬湲곗꽌 h뒗 different haplotypes쓽 珥 닔씠怨, n 遺꾩꽍 媛쒖껜쓽 珥 닔瑜 굹궦떎(Nei, 1987).

Lee et al. (Lee et al., 2023) 꽑뻾 뿰援ъ뿉꽌 꽌濡 뿰愿 뾾뒗 궓꽦 476紐 以 2紐 씠긽씠 룞씪븳 Y23 븯뵆濡쒗엯쓣 媛吏뒗 16紐낆쓽 떆猷뚮 꽑蹂꾪븯怨, Yfiler Plus瑜 궗슜븳 異붽쟻씤 DNA 利앺룺쓣 떆뻾븯뿬 Ymax源뚯 留덉빱 솗옣 遺꾩꽍쓣 떆뻾븯떎. 利앺룺 궛臾쇱 3,500 xL Genetic Analyzers (Applied Biosystems)瑜 궗슜븯뿬 紐⑥꽭愿 쟾湲곗쁺룞(Capillary Electrophoresis, CE)쓣 떆뻾븯怨, GeneMapper ID-X software v.1.4 (Applied Biosystems)瑜 궗슜븯뿬 由쎌쑀쟾옄瑜 솗씤븯떎. 16紐낆뿉 븳 떆猷뚯쓽 닔吏묎낵 씠슜 援由쎄낵븰닔궗뿰援ъ썝쓽 IRB 듅씤(IRB 906-210118-BR-007-01)쓣 諛쏆븘 닔뻾릺뿀떎. 삉븳 29媛쒖쓽 留덉빱뿉 븳 gene diversity (GD) 룎뿰蹂씠쑉쓣 議곗궗븯뿬 젣떆븯떎.

뜑遺덉뼱, 븳援씤뿉寃 留롮씠 愿李곕릺뒗 븯뵆濡쒗엯쓣 遺꾩꽍 移댄뀒怨좊━쓽 湲곗쑝濡 젣떆븯쑝硫, 媛 븯뵆濡쒗엯씠 愿李곕맂 媛쒖껜쓽 닔瑜 젣떆븯떎.

寃 怨

留덉빱 솗옣뿉 뵲瑜 떇蹂꾨젰 蹂솕 遺꾩꽍

蹂 뿰援щ뒗 留덉빱媛 솗옣릺硫댁꽌 蹂솕븯뒗 HD 媛믨낵 DC 媛믪쓣 愿李고븯湲 쐞빐 YHRD 뜲씠꽣꽭듃 꽑뻾 뿰援щ 李멸퀬븯怨, PPY23怨 Yfiler Plus 궎듃뿉 룷븿맂 理쒕 留덉빱 닔씤 29媛쒓퉴吏 遺꾩꽍븯떎. 삉븳 RM Y-STR 留덉빱媛 룷븿맂 솗옣怨 諛곗젣맂 留덉빱 솗옣쓽 떇蹂꾨젰 蹂솕룄 븿猿 遺꾩꽍븯떎. Table 2뿉꽌 젣떆맂 寃껉낵 媛숈씠, RM Y-STR쓣 룷븿븳 留덉빱媛 솗옣릺硫댁꽌 룞씪븳 븯뵆濡쒗엯쓣 怨듭쑀븯뒗 媛쒖껜 닔媛 젏李 媛먯냼븯쑝硫, HD 媛믨낵 DC 媛믪 젏李 利앷븯떎. Y23뿉꽌 Y27(1) 삉뒗 Y27(2) 솗옣 HD 媛믪쓣 0.9999뿉꽌 1.0000쑝濡 利앷떆耳곗쑝硫, 듅엳 non RM Y-STR씤 DYS549, DYS643 떊 RM Y-STR씤 DYF387S1 留덉빱瑜 異붽븳 Y27(2) (0.9881)媛 Y27(1) (0.9866)뿉 鍮꾪빐 DC 媛믪쓣 醫 뜑 利앷떆耳곕떎. Ymax뿉꽌뒗 HD 媛믨낵 DC 媛 紐⑤몢 媛옣 넂 媛믪쓣 蹂댁떎.

The forensic parameters evaluated for each haplotype set

No. of identical haplotype1) Expansion with RM Y-STRs Expansion without RM Y-STRs
Y21(RM) Y23 Y27(1) Y27(2) Ymax Minimal Y12 Y17 Y21 Y22
n=1133 n=1133 n=673 n=673 n=673 n=1133 n=1133 n=1133 n=1133 n=673
1 (unique haplotype) 1067 1083 656 659 660 591 734 973 1042 620
2 22 18 7 5 5 89 80 45 31 17
3 1 2 1 1 28 22 8 3 1
4 1 1 9 12 3 1
5 7 1
6 1 4 2 1 1
7 2 1
8 1 1 2
9 1 1
10 1 1 1 1
11 3 1 2
12 1
14 1
18 1
19 1 1
20 1
22 1
27 1
36 1
Different haplotype 1093 1104 664 665 666 741 859 1032 1079 640
HMP2) 0.0010 0.0010 0.0015 0.0015 0.0015 0.0040 0.0026 0.0013 0.0010 0.0018
HD3) 0.9999 0.9999 1.0000 1.0000 1.0000 0.9969 0.9983 0.9996 0.9998 0.9996
DC4) 0.9647 0.9744 0.9866 0.9881 0.9896 0.6540 0.7582 0.9109 0.9523 0.9510

1) The count of individuals with an identical haplotype

2) Haplotype match probability

3) Haplotype diversity

4) Discrimination capacity



떎쓬쑝濡, 룎뿰蹂씠瑜 怨좊젮븯뿬 RM Y-STR쓣 諛곗젣븳 솗옣 遺꾩꽍쓣 닔뻾븯뿬 HD DC 媛믪뿉 誘몄튂뒗 쁺뼢쓣 愿李고븯떎. Table 2뿉꽌 젣떆맂 寃껉낵 媛숈씠, minimal뿉꽌 HD 媛믪 0.9969濡 넂 媛믪쓣 蹂댁吏留 DC 媛 0.6540쑝濡 떎냼 궙븯떎. Non RM Y-STR 留덉빱쓽 솗옣룄 HD 媛믨낵 DC 媛믪쓽 젏吏꾩쟻씤 뼢긽뿉 湲곗뿬븯쑝硫, Y17遺꽣 DC 媛믪씠 0.9109濡 0.90 씠긽쓽 媛믪쓣 蹂댁떎.

留덉빱 닔媛 룞씪븳 뜲씠꽣꽭듃 媛 鍮꾧탳 遺꾩꽍쓣 넻빐 RM Y-STR 쑀臾대줈 씤븳 DC 蹂솕 諛 DC 뼢긽뿉 湲곗뿬븯뒗 留덉빱쓽 듅吏뺤뿉 빐 븣븘蹂댁븯떎. 留덉빱 닔媛 룞씪븳 Y27(1)怨 Y27(2)瑜 鍮꾧탳빐蹂댁븯쓣 븣 non RM Y-STR씤 DYS549, DYS643쓣 룷븿븳 Y27(1)蹂대떎 RM Y-STR씤 DYF387S1쓣 룷븿븳 Y27(2)쓽 DC 媛믪씠 뜑 넂븯떎(Y27(1): 0.9866, Y27(2): 0.9881). 삉븳 Y21怨 Y21(RM)쓣 鍮꾧탳빐蹂댁븯쓣 븣 non RM Y-STR씤 DYS549, DYS643쓣 룷븿븳 Y21蹂대떎 RM Y-STR씤 DYS570, DYS576쓣 룷븿븳 Y21(RM)쓽 DC 媛믪씠 넂븯떎(Y21: 0.9523, Y21(RM): 0.9647). Y21뿉꽌 Y22濡 non RM Y-STR씤 DYS460 솗옣 DC 뼢긽뿉 쁺뼢쓣 誘몄튂吏 紐삵븯吏留, Y21(RM)뿉꽌 Y23 삉뒗 Y27(2)뿉꽌 Ymax濡 non RM Y-STR씤 DYS549 DYS643쓽 룞떆 솗옣 DC 뼢긽뿉 쁺뼢쓣 誘몄낀떎.

留덉빱 솗옣 遺꾩꽍

蹂 뿰援ъ옄쓽 꽑뻾 뿰援(Lee et al., 2023)뿉꽌 븳援씤 吏묐떒쓽 꽌濡 뿰愿 뾾뒗 궓꽦 476紐낆쓣 긽쑝濡 Y23 븯뵆濡쒗엯 遺꾩꽍쓣 떆뻾븯怨, Table 3 媛숈씠 16紐낆씠 7洹몃9쑝濡 룞씪븳 븯뵆濡쒗엯쓣 怨듭쑀뻽떎. 븯뵆濡쒗엯씠 룞씪븯뜕 16紐낆쓣 긽쑝濡 Table 3 媛숈씠 Ymax源뚯 留덉빱 솗옣 遺꾩꽍쓣 떆뻾븯怨, 솗옣맂 5媛쒖쓽 留덉빱씤 DYS449, DYS460, DYS518, DYS627 諛 DYF387S1a/b (multi-locus marker, 씠븯 DYF387S1)뿉 빐 떇蹂꾨젰씠 뼢긽릺뒗 젙룄瑜 遺꾩꽍븯쑝硫, 媛 留덉빱蹂 gene diversity (GD) 諛 룎뿰蹂씠쑉쓣 議곗궗븯뿬 젣떆븯떎(Table 4).

Marker expansion from 23 Y-STRs to 29 Y-STRs

Classification Group No. 1 2 3 4 5 6 7
7(1) 7(2)
DYS19 15 16 16 15 16 15 15
DYS389 I 14 14 14 12 14 12 12
DYS389 II 29 29 29 29 29 29 29
DYS390 23 23 23 23 23 24 23
DYS391 10 10 10 10 10 10 10
DYS392 11 13 13 12 13 12 12
DYS393 14 13 13 12 13 12 12
DYS385a/b 11, 16 10, 18 10, 19 11, 19 10, 18 12, 12 11, 19
DYS437 14 14 14 15 14 15 15
DYS438 10 13 13 10 13 10 10
DYS439 12 12 12 11 12 11 11
DYS448 21 18 18 19 18 19 19
DYS456 15 15 15 16 15 15 16
DYS458 17 17 17 18 17 19 18
DYS635 24 21 21 21 21 20 21
Y GATA H4 11 11 11 11 11 12 11
DYS481 24 23 23 20 24 22 20
DYS533 12 11 11 11 11 10 11
DYS570* 16 18 18 18 16 18 18
DYS576* 16 17 17 20 18 20 19
DYS549 12 12 12 14 12 12 14
Y23 DYS643 9 13 13 11 13 11 11
DYS449* 301) 29 31 32 31 31 32 32 31 31 34 34 32 32 32 32
DYS460 10 10 11 11 11 11 11 11 11 11 10 10 11 11 11 11
DYS518* 36 36 40 42 42 42 37 37 39 39 35 35 37 37 37 37
DYS627* 21 20 21 21 21 22 24 24 22 22 21 21 23 23 24 24
Ymax DYF387S1a/b* 36, 36 36, 37 35, 40 35, 40 39, 39 35, 40 39, 40 38, 39 35, 40 35, 40 37, 38 37, 38 38, 40 38, 40 38, 40 38, 40

1) Differences in alleles are bolded and underlined.

*RM Y-STR

Unidentified groups are marked



Gene diversity (GD) and mutation rate for each locus

Locus Korean population Worldwide population
GD (Ranking) Mutation rate (Ranking) GD (Ranking) Mutation rate (Ranking)
DYS19 0.70 [1] (13) 3.03 × 10-3 [1] (11) 0.70 [3] (11) 2.20 × 10-3 [4] (20)
DYS389 I 0.68 [1] (14) 3.03 × 10-3 [1] (11) 0.63 [3] (16) 2.43 × 10-3 [4] (18)
DYS389 II 0.72 [1] (12) 4.04 × 10-3 [1] (9) 0.63 [3] (16) 4.99 × 10-3 [4] (8)
DYS390 0.66 [1] (16) 1.01 × 10-3 [1] (20) 0.75 [3] (6) 2.00 × 10-3 [4] (21)
DYS391 0.28 [1] (27) 1.01 × 10-3 [1] (20) 0.52 [3] (22) 2.26 × 10-3 [4] (19)
DYS392 0.66 [1] (16) 0.00 × 10-3 [1] (24) 0.66 [3] (15) 0.44 × 10-3 [4] (26)
DYS393 0.63 [1] (19) 2.02 × 10-3 [1] (18) 0.53 [3] (21) 1.27 × 10-3 [4] (22)
DYS385 0.961) [1] (1) 2.02 × 10-3 [1] (18) 0.92 [3] (1) 2.78 × 10-3 [4] (15)
DYS437 0.41 [1] (26) 1.01 × 10-3 [1] (20) 0.62 [3] (18) 1.19 × 10-3 [4] (23)
DYS438 0.62 [1] (20) 0.00 × 10-3 [1] (24) 0.71 [3] (9) 0.39 × 10-3 [4] (27)
DYS439 0.61 [1] (21) 3.03 × 10-3 [1] (11) 0.69 [3] (12) 4.46 × 10-3 [4] (10)
DYS448 0.75 [1] (11) 0.00 × 10-3 [1] (24) 0.69 [3] (12) 1.19 × 10-3 [4] (23)
DYS456 0.51 [1] (24) 3.03 × 10-3 [1] (11) 0.71 [3] (9) 4.06 × 10-3 [4] (12)
DYS458 0.78 [1] (8) 7.08 × 10-3 [1] (4) 0.79 [3] (4) 6.52 × 10-3 [4] (6)
DYS635 0.67 [1] (15) 7.08 × 10-3 [1]] (4) 0.74 [3] (7) 4.36 × 10-3 [4] (11)
Y GATA H4 0.59 [1] (22) 1.01 × 10-3 [1] (20) 0.61 [3] (20) 2.55 × 10-3 [4] (17)
DYS481 0.78 [1] (8) 4.07 × 10-3 [1] (8) 0.83 [3] (2) 3.75 × 10-3 [4] (13)
DYS533 0.50 [1] (25) 2.03 × 10-3 [1] (17) 0.62 [3] (18) 2.73 × 10-3 [4] (16)
DYS570* 0.79 [1] (6) 6.10 × 10-3 [1] (6) 0.80 [3] (3) 8.01 × 10-3 [4] (5)
DYS576* 0.78 [1] (8) 1.12 × 10-2 [1] (2) 0.79 [3] (4) 1.16 × 10-2 [4] (2)
DYS549 0.58 [1] (23) 3.05 × 10-3 [1] (10) 0.67 [3] (14) 3.03 × 10-3 [4] (14)
DYS643 0.79 [1] (6) 0.00 × 10-3 [1] (24) 0.72 [3] (8) 1.00 × 10-3 [4] (25)
DYS449* 0.86 [2] (3) 1.93 × 10-2 [2] (1) 9.64 × 10-3 [4] (4)
DYS460 0.65 [2] (18) 2.80 × 10-3 [2] (15) 4.55 × 10-3 [4] (9)
DYS518* 0.86 [2] (3) 5.50 × 10-3 [2] (7) 1.06 × 10-2 [4] (3)
DYS627* 0.83 [2] (5) 1.10 × 10-2 [2] (3) 1.39 × 10-2 [4] (1)
DYF387S1* 0.95 [2] (2) 2.80 × 10-3 [2] (15) 6.47 × 10-3 [4] (7)

1) Markers with high gene diversity and low mutation rate are bolded and underlined

*RM Y-STR

[1] (Lee et al., 2023), [2] (Oh et al., 2015), [3] (Purps et al., 2014), [4] YHRD was referenced



Table 3뿉꽌 솗옣맂 5媛쒖쓽 留덉빱 以 16媛쒖껜 떇蹂꾩뿉 븳 떇蹂꾨젰 DYS627(4洹몃9 떇蹂)媛 媛옣 넂븯怨, DYF387S1 (3洹몃9 떇蹂), DYS449(2洹몃9 떇蹂), DYS518(1洹몃9 떇蹂), DYS460(떇蹂 遺덇)쓽 닚꽌濡 愿李곕릺뿀떎. 1洹몃9 씠긽쓣 떇蹂꾪븳 DYS627, DYF387S1, DYS449 諛 DYS518 留덉빱뒗 紐⑤몢 RM Y-STR 留덉빱濡, 1洹몃9룄 떇蹂꾪븯吏 紐삵븳 DYS460 留덉빱뒗 non RM Y-STR 留덉빱濡 븣젮졇 엳떎. 諛섎㈃, 4洹몃9(洹몃9 5, 6, 7(1), 7(2))쓽 8紐낆 留덉빱瑜 29 Y-STRs源뚯 솗옣뻽쓬뿉룄 由쎌쑀쟾옄 李⑥씠媛 諛쒖깮븯吏 븡븯떎(Table 3).

꽑뻾 뿰援(Oh et al., 2015)뿉꽌 솗옣맂 5媛쒖쓽 留덉빱뿉 븳 GD 媛믪쓣 議곗궗빐蹂 寃곌낵, 븳援씤 吏묐떒 궡 GD 媛믪 DYF387S1 (0.95), DYS518 (0.86), DYS449 (0.86), DYS627 (0.83), DYS460 (0.65) 닚쑝濡, RM Y-STR 留덉빱뒗 紐⑤몢 GD 媛 0.8 씠긽쓽 넂 떎삎꽦쓣 蹂댁떎(Table 4). 씠 留덉빱뱾쓽 룎뿰蹂씠쑉 DYS449 (1.93 횞 10-2), DYS627 (1.10 횞 10-2), DYS518 (5.50 횞 10-3), DYF387S1 (2.80 횞 10-3), DYS460 (2.80 횞 10-3) 닚쑝濡 굹궗떎(Table 4).

븳援씤 궓꽦쓽 븯뵆濡쒗엯 듅吏

븳援씤 궓꽦 吏묐떒뿉꽌 遺꾩꽍 移댄뀒怨좊━쓽 留덉빱媛 솗옣맆닔濡 愿李곕릺뒗 븯뵆濡쒗엯쓽 醫낅쪟(洹몃9) 鍮덈룄(媛쒖껜) 닔뒗 Table 5 媛숈븯떎. Y21(RM)뿉꽌뒗 26醫낅쪟쓽 븯뵆濡쒗엯씠 愿李곕릺뿀쑝硫 理쒕 9媛쒖껜媛 븯뵆濡쒗엯씠 룞씪븯떎. 留덉빱媛 솗옣맆닔濡 愿李곕릺뒗 븯뵆濡쒗엯쓽 醫낅쪟 鍮덈룄 닔媛 以꾩뼱뱾뿀怨, 理쒕 솗옣븳 Ymax뿉꽌뒗 6醫낅쪟쓽 븯뵆濡쒗엯씠 愿李곕릺뿀쑝硫 理쒕 3媛쒖껜媛 븯뵆濡쒗엯씠 룞씪븯떎.

Haplotypes and number of individuals according to Y-STRs expansion

Classification Haplotype DYS 19 DYS 389 I DYS 389 II DYS 390 DYS 391 DYS 392 DYS 393 DYS 385 DYS 437 DYS 438 DYS 439 DYS 448 DYS 456 DYS 458 DYS 635 GATA H4 DYS 481 DYS 533 DYS 570 DYS 576 DYS 549 DYS 643 DYS 449 DYS 460 DYS 518 DYS 627 DYF 387S1 No.
Y21(RM) (n=1,133) 1 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 19 9
2 16 14 29 23 10 13 13 10, 19 14 13 12 18 15 17 21 11 23 11 18 17 6
3 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 17 21 11 23 11 18 17 4
4 16 14 29 23 10 13 13 10, 19 14 13 12 18 15 17 21 11 23 11 17 17 3
5 14 12 28 24 10 14 12 12, 18 15 11 12 20 15 17 20 12 24 11 18 18 2
6 14 12 28 24 10 14 12 13, 20 15 11 11 20 15 17 21 12 23 11 19 18 2
7 14 13 30 25 11 13 13 13, 18 15 11 12 20 15 18 21 11 23 11 19 18 2
8 15 12 28 23 11 14 13 13, 13 14 10 12 18 16 15 21 12 24 11 18 18 2
9 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 20 2
10 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 19 21 11 20 11 18 19 2
11 15 12 29 23 10 12 12 14, 16 15 10 12 19 17 18 21 12 22 11 17 18 2
12 15 12 29 23 10 12 13 12, 17 14 10 11 19 17 16 19 13 21 11 16 19 2
13 15 12 29 24 10 12 12 12, 12 15 10 11 19 15 19 20 12 22 10 18 20 2
14 15 14 29 23 10 11 14 11, 16 14 10 12 21 15 17 24 11 24 12 16 16 2
15 15 14 29 23 10 11 15 11, 17 14 10 12 21 15 16 21 11 24 12 16 17 2
16 15 14 30 23 10 11 15 11, 19 14 10 10 21 15 15 21 11 26 12 16 17 2
17 15 14 31 23 10 13 13 10, 19 14 13 12 18 16 19 20 12 22 11 19 17 2
18 16 13 29 23 10 11 14 12, 19 14 10 12 22 15 18 21 11 24 12 16 18 2
19 16 13 29 23 11 11 14 12, 18 14 10 11 22 15 18 21 11 25 12 16 19 2
20 16 14 29 23 10 13 13 10, 17 14 13 12 18 15 18 21 11 23 11 18 17 2
21 16 14 29 23 10 13 13 10, 18 14 13 11 18 15 17 21 11 23 11 18 17 2
22 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 17 21 11 24 11 16 18 2
23 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 18 21 11 23 11 16 17 2
24 16 14 29 23 10 13 13 10, 19 14 13 12 18 15 18 21 11 23 11 18 17 2
25 16 14 29 24 10 13 13 10, 19 14 13 12 18 15 17 21 11 23 11 18 17 2
26 17 12 29 24 10 13 12 15, 21 15 10 11 20 15 16 21 12 23 11 19 21 2
Y23 (n=1,133) 1 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 19 14 11 8
2 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 17 21 11 23 11 18 17 12 13 3
3 16 14 29 23 10 13 13 10, 19 14 13 12 18 15 17 21 11 23 11 18 17 12 13 3
4 14 12 28 24 10 14 12 12, 18 15 11 12 20 15 17 20 12 24 11 18 18 12 12 2
5 14 12 28 24 10 14 12 13, 20 15 11 11 20 15 17 21 12 23 11 19 18 12 10 2
6 14 13 30 25 11 13 13 13, 18 15 11 12 20 15 18 21 11 23 11 19 18 14 12 2
7 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 20 14 11 2
8 15 12 29 23 10 12 12 14, 16 15 10 12 19 17 18 21 12 22 11 17 18 13 11 2
9 15 12 29 23 10 12 13 12, 17 14 10 11 19 17 16 19 13 21 11 16 19 12 11 2
10 15 12 29 24 10 12 12 12, 12 15 10 11 19 15 19 20 12 22 10 18 20 12 11 2
11 15 14 29 23 10 11 14 11, 16 14 10 12 21 15 17 24 11 24 12 16 16 12 9 2
12 15 14 29 23 10 11 15 11, 17 14 10 12 21 15 16 21 11 24 12 16 17 12 9 2
13 15 14 30 23 10 11 15 11, 19 14 10 10 21 15 15 21 11 26 12 16 17 12 8 2
14 15 14 31 23 10 13 13 10, 19 14 13 12 18 16 19 20 12 22 11 19 17 12 12 2
15 16 13 29 23 10 11 14 12, 19 14 10 12 22 15 18 21 11 24 12 16 18 14 9 2
16 16 13 29 23 11 11 14 12, 18 14 10 11 22 15 18 21 11 25 12 16 19 13 9 2
17 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 17 21 11 24 11 16 18 12 13 2
18 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 18 21 11 23 11 16 17 12 12 2
19 16 14 29 23 10 13 13 10, 19 14 13 12 18 15 17 21 11 23 11 17 17 12 13 2
20 16 14 29 23 10 13 13 10, 19 14 13 12 18 15 17 21 11 23 11 18 17 13 13 2
21 16 14 29 23 10 13 13 10, 19 14 13 12 18 15 18 21 11 23 11 18 17 12 13 2
Y27(1) (n=673) 1 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 19 14 11 32 11 37 23 3
2 14 13 30 25 11 13 13 13, 18 15 11 12 20 15 18 21 11 23 11 19 18 14 12 41 10 34 21 2
3 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 19 14 11 32 11 37 24 2
4 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 20 14 11 32 11 37 24 2
5 15 12 29 23 10 12 12 14, 16 15 10 12 19 17 18 21 12 22 11 17 18 13 11 35 10 37 21 2
6 15 12 29 23 10 12 13 12, 17 14 10 11 19 17 16 19 13 21 11 16 19 12 11 34 11 42 22 2
7 15 12 29 24 10 12 12 12, 12 15 10 11 19 15 19 20 12 22 10 18 20 12 11 34 10 35 21 2
8 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 17 21 11 24 11 16 18 12 13 31 11 39 22 2
Y27(2) (n=673) 1 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 19 32 11 37 23 38, 40 4
2 14 13 30 25 11 13 13 13, 18 15 11 12 20 15 18 21 11 23 11 19 18 41 10 34 21 37, 40 2
3 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 19 32 11 37 24 38, 40 2
4 15 12 29 23 10 12 12 14, 16 15 10 12 19 17 18 21 12 22 11 17 18 35 10 37 21 37, 39 2
5 15 12 29 24 10 12 12 12, 12 15 10 11 19 15 19 20 12 22 10 18 20 34 10 35 21 37, 38 2
6 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 17 21 11 24 11 16 18 31 11 39 22 35, 40 2
Ymax (n=673) 1 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 19 14 11 32 11 37 23 38, 40 3
2 14 13 30 25 11 13 13 13, 18 15 11 12 20 15 18 21 11 23 11 19 18 14 12 41 10 34 21 37, 40 2
3 15 12 29 23 10 12 12 11, 19 15 10 11 19 16 18 21 11 20 11 18 19 14 11 32 11 37 24 38, 40 2
4 15 12 29 23 10 12 12 14, 16 15 10 12 19 17 18 21 12 22 11 17 18 13 11 35 10 37 21 37, 39 2
5 15 12 29 24 10 12 12 12, 12 15 10 11 19 15 19 20 12 22 10 18 20 12 11 34 10 35 21 37, 38 2
6 16 14 29 23 10 13 13 10, 18 14 13 12 18 15 17 21 11 24 11 16 18 12 13 31 11 39 22 35, 40 2

Most observed haplotype


怨 李

Y-STR 遺꾩꽍 긽슜솕 궎듃쓽 吏냽쟻씤 媛쒕컻濡 씤빐 留덉빱쓽 닔媛 利앷븯怨, 씠濡 씤빐 떇蹂꾨젰씠 怨꾩냽빐꽌 뼢긽릺뼱 솕떎. 븳援씤 궓꽦 306紐낆쓣 긽쑝濡 븳 꽑뻾 뿰援ъ뿉꽌 23 Y-STRs 遺꾩꽍 湲곗쑝濡쒕뒗 쑀씪븳(unique) 븯뵆濡쒗엯씠 296媛쒖吏留(HD: 0.9999; DC: 0.9837), 27 Y-STRs 遺꾩꽍 湲곗쑝濡쒕뒗 쑀씪븳 븯뵆濡쒗엯씠 304媛쒕줈 利앷븯뿬(HD: 1.0000; DC: 0.9935), 留덉빱 닔媛 利앷븷닔濡 떇蹂꾨젰씠 뼢긽맂 寃껋쓣 솗씤븯떎(Jung et al., 2016). 삉 떎瑜 븳援씤 궓꽦 351紐낆쓣 긽쑝濡 븳 꽑뻾 뿰援ъ뿉꽌 23 Y-STRs 遺꾩꽍 湲곗쑝濡쒕뒗 쑀씪븳 븯뵆濡쒗엯씠 343媛쒖吏留(HD: 0.9999; DC: 0.9886), 27 Y-STRs 遺꾩꽍 湲곗쑝濡쒕뒗 쟾泥 351媛 븯뵆濡쒗엯씠 떇蹂 媛뒫븯떎(Oh et al., 2015).

떎뼇븳 씤援 吏묐떒뿉꽌 29 Y-STRs 븯뵆濡쒗엯뿉 븳 뿰援ш 吏냽쟻쑝濡 諛쒗몴릺怨 엳떎. 以묎뎅뿉꽌뒗 뿬윭 븯쐞 씤醫 吏묐떒쓣 긽쑝濡 닔뻾븳 29 Y-STRs 븯뵆濡쒗엯 뿰援 寃곌낵瑜 鍮꾨’븯뿬(Zhou et al., 2018; Zhang et al., 2019; Li et al., 2020; Song et al., 2020), 옄泥 媛쒕컻븳 29媛쒖쓽 Y-STRs 留덉빱瑜 떎以 利앺룺븯뿬 遺꾩꽍븷 닔 엳뒗 MicroreaderTM 29Y Prime ID system (Song et al., 2020)怨 DNA TyperTM Y29 PCR Amplification kit (Zhang et al., 2019)瑜 궗슜븳 뿰援щ 蹂닿퀬븯떎. 洹 以 긽븯씠 以묎뎅 븳議 吏묐떒 궡 뿰愿 뾾뒗 궓꽦 843紐낆쓣 긽쑝濡 닔뻾맂 뿰援ъ뿉꽌룄, 23 Y-STRs (HD: 1.0000, DC: 0.9917)뿉꽌 29 Y-STRs (HD: 1.0000, DC: 0.9976)濡 遺꾩꽍 留덉빱 닔媛 利앷븿뿉 뵲씪 떇蹂꾨젰씠 뼢긽맖쓣 愿李고븯떎(Zhou et al., 2018).

洹몃━븯뿬 蹂 뿰援щ뒗 留덉빱媛 솗옣릺硫댁꽌 蹂솕븯뒗 HD 媛믨낵 DC 媛믪쓣 愿李고븯湲 쐞빐 YHRD 뜲씠꽣꽭듃 꽑뻾 뿰援щ 李멸퀬븯뿬 理쒕 留덉빱 닔씤 29媛쒓퉴吏 遺꾩꽍븯떎. RM Y-STR쓣 룷븿븳 留덉빱 솗옣 遺꾩꽍뿉꽌 룞씪븳 븯뵆濡쒗엯쓣 怨듭쑀븯뒗 媛쒖껜 닔媛 젏李 媛먯냼븯쑝硫, HD 媛믨낵 DC 媛믪 젏李 利앷븯뿬 넂 蹂蹂꾨젰쓣 뼸쓣 닔 엳떎. 삉븳 RM Y-STR쓣 諛곗젣븳 留덉빱 솗옣 遺꾩꽍뿉꽌룄 HD 媛믨낵 DC 媛믪씠 젏吏꾩쟻쑝濡 뼢긽뻽吏留, Y21뿉꽌 Y22濡 DYS460 留덉빱 솗옣 HD 媛믨낵 DC 媛믪씠 媛먯냼븯떎. 씠뒗 遺꾩꽍 떆猷 媛꾩쓽 李⑥씠(bias)媛 썝씤씪 媛뒫꽦씠 엳떎. 寃곌낵쟻쑝濡 Y21뿉꽌 HD 媛믨낵 DC 媛믪씠 媛옣 넂븯쑝硫, 씠뒗 RM Y-STR 留덉빱瑜 룷븿븳 솗옣 遺꾩꽍뿉꽌 留덉빱 닔媛 媛옣 옉 Y21(RM)쓽 HD 媛믨낵 DC 媛믩낫떎뒗 궙븯吏留 HD 媛믪 0.99 씠긽, DC 媛믪 0.95 씠긽쑝濡 遺꾩꽍븯湲곗뿉 떊猶곗꽦 엳뒗 닔移섎줈 뙋떒맂떎. 뵲씪꽌 RM Y-STR쓣 諛곗젣븳 솗옣 遺꾩꽍 蹂씠瑜 理쒖냼솕븯硫댁꽌 蹂蹂꾨젰쓣 넂씪 닔 엳쑝誘濡 遺덉긽蹂궗옄 諛 웾옱궃씗깮옄 떊썝솗씤뿉꽌 룞씪遺怨꾩쓽 옒紐삳맂 諛곗젣 媛뒫꽦쓣 以꾩씠뒗뜲 룄씠 맆 寃껋쑝濡 궗猷뚮맂떎(Ambers et al., 2018). 긽슜솕맂 Y-STR 궎듃 궡 留덉빱쓽 援ъ꽦 痢〓㈃뿉꽌뒗, QSY-28 궎듃媛 DYS460쓣 룷븿븳 理쒕 22媛쒖쓽 non RM Y-STR쓣 룞떆뿉 遺꾩꽍븷 닔 엳쑝誘濡 룞씪遺怨 媛먯젙뿉꽌 쑀슜븷 寃껋쑝濡 궗猷뚮맂떎.

Y23뿉꽌 RM Y-STR (DYS627, DYF387S1, DYS449, DYS518)씠 룷븿맂 솗옣 遺꾩꽍 떇蹂꾨젰쓣 뼢긽떆궗 닔 엳怨, 쁽옣利앷굅臾 遺꾩꽍뿉 留ㅼ슦 쑀슜븷 寃껋쑝濡 궗猷뚮맂떎. 븯吏留 PPY23 궎듃 Yfiler Plus 궎듃瑜 援먯감遺꾩꽍 빐빞 Ymax源뚯 遺꾩꽍븷 닔 엳쑝誘濡, 쁽옣利앷굅臾 떆猷뚯쓽 뼇쟻 븳怨꾨 怨좊젮븯뿬 긽솴뿉 留욌뒗 꽑깮怨 슚쑉쟻씤 遺꾩꽍씠 븘슂븯떎. 以묎뎅뿉꽌 씠윭븳 떇蹂꾨젰쓣 怨좊젮븯뿬 옄泥 媛쒕컻븳 MicroreaderTM 29Y Prime ID system 궎듃쓽 寃쎌슦, 29媛쒖쓽 留덉빱瑜 떎以 利앺룺븯뿬 븳 踰덉뿉 遺꾩꽍븿쑝濡쒖뜥 끂룞젰怨 鍮꾩슜쟻 痢〓㈃뿉꽌 슚쑉꽦쓣 넂떎. 삉븳, Scientific Working Group on DNA Analysis Methods (SWGDAM)쓽 "Validation Guidelines for DNA Analysis Methods (2016)"뿉 뵲씪 洹 쑀슚꽦(validation)씠 寃利앸릺뼱 떊猶곗꽦 엳뒗 寃곌낵瑜 뼸뿀떎(Zhao et al., 2020). 29媛 留덉빱뿉 븳 遺꾩꽍 寃곌낵瑜 븳 踰덉뿉 솗蹂댄븳 썑 遺꾩꽍 紐⑹쟻뿉 뵲씪 RM Y-STR쓽 씠슜 뿬遺瑜 떖由ы븿쑝濡쒖뜥 꽑蹂꾩쟻 솢슜씠 媛뒫븷 寃껋쑝濡 궗猷뚮맂떎.

꽑뻾 뿰援ъ뿉꽌 珥 22媛 씤援 吏묐떒쑝濡 援ъ꽦맂 븘떆븘 씤援 洹몃9뿉꽌뒗 3,458媛쒖쓽 23 Y-STRs 븯뵆濡쒗엯 以 165紐낆씠 룞씪븳 븯뵆濡쒗엯쓣 怨듭쑀븯怨, 珥 129媛 씤援 吏묐떒쑝濡 援ъ꽦맂 쟾꽭怨 씤援 洹몃9뿉꽌뒗 18,237媛쒖쓽 23 Y-STRs 븯뵆濡쒗엯 以 1,393紐낆씠 룞씪븳 븯뵆濡쒗엯쓣 怨듭쑀븯떎(Purps et al., 2014). 븳援씤 吏묐떒(Lee et al., 2023)뿉꽌뒗 꽌濡 뿰愿 뾾뒗 궓꽦 476紐낆쓽 23 Y-STRs 븯뵆濡쒗엯 以 16紐낆씠 7洹몃9쑝濡 룞씪븳 븯뵆濡쒗엯쓣 怨듭쑀븯떎. 씠泥섎읆 겕湲곌 겙 씤援 吏묐떒씠굹 듅젙 씤援 吏묐떒뿉꽌 23 Y-STRs 븯뵆濡쒗엯留뚯쑝濡쒕뒗 꽌濡 뿰愿 뾾뒗 궓꽦 媛꾩쓽 떇蹂꾩뿉 븳怨꾧 엳떎. 뵲씪꽌 븳援씤 吏묐떒뿉꽌 븯뵆濡쒗엯씠 룞씪븯뜕 16紐낆쓣 긽쑝濡 Ymax源뚯 留덉빱 솗옣 遺꾩꽍쓣 떆뻾븯怨, 7洹몃9쑝濡 룞씪븳 븯뵆濡쒓렇猷뱀쓣 怨듭쑀븳 16媛쒖껜 떇蹂꾩뿉 븳 떇蹂꾨젰, GD 媛 諛 룎뿰蹂씠쑉쓣 留덉빱 궡뿉꽌 닚쐞濡 鍮꾧탳 遺꾩꽍빐蹂대㈃, DYS627 16媛쒖껜쓽 떇蹂꾨젰(1쐞)怨 룎뿰蹂씠쑉(2쐞)씠 GD 媛(4쐞)뿉 鍮꾪빐 넂븯怨, DYF387S1 16媛쒖껜쓽 떇蹂꾨젰(2쐞)怨 GD 媛(1쐞)씠 룎뿰蹂씠쑉(4쐞)뿉 鍮꾪빐 넂븯떎. 씠뒗 뼢썑 媛쒖씤 떇蹂꾩쓣 紐⑹쟻쑝濡 Y-STR 留덉빱 꽑젙 떆, GD 媛믨낵 룎뿰蹂씠쑉쓽 醫낇빀쟻씤 怨좊젮媛 븘슂븷 닔 엳쓬쓣 蹂댁뿬以떎. 뜑遺덉뼱, 꽭怨 씤援 吏묐떒怨 鍮꾧탳븯뿬 븳援씤 吏묐떒뿉꽌 DYS635 諛 DYS449 留덉빱쓽 룎뿰蹂씠쑉씠 넂 寃껋쑝濡 遺꾩꽍릺뿀뒗뜲(Table 4), 씠뒗 븳援씤뿉 珥덉젏쓣 留욎텣 Y-STR 궎듃 옄泥 媛쒕컻 떆 怨좊젮맆 븘슂媛 엳떎.

븳援씤 吏묐떒 궡 꽑뻾 뿰援(Oh et al., 2015)뿉꽌 DYF387S1 RM Y-STR 留덉빱엫뿉룄 鍮꾧탳쟻 궙 룎뿰蹂씠쑉뿉 냽뻽怨, YHRD뿉 벑濡앸맂 쟾꽭怨 씤援 吏묐떒뿉꽌룄 non RM Y-STR씤 DYS458 (6.52 횞 10-3)쓽 룎뿰蹂씠쑉怨 쑀궗븯떎(Table 4). DYF387S1怨 쑀궗븯寃 multi-locus Y-STR 留덉빱씤 DYS385룄 븳援씤 씤援 吏묐떒뿉꽌 23 Y-STRs 留덉빱 以 媛옣 넂 GD (0.96) 媛믪쓣 媛뽯뒗 諛섎㈃, 룎뿰蹂씠쑉(2.02 횞 10-3) 13踰덉㎏ 닚쐞濡 鍮꾧탳쟻 궙 렪씠뿀怨, 쟾꽭怨 씤援 吏묐떒뿉꽌룄 넂 GD (0.92) 媛믨낵 궙 룎뿰蹂씠쑉(2.78 횞 10-3) 뼇긽쓣 蹂댁떎(Table 4). DYS448怨 DYS643 삉븳 븳援씤 씤援 吏묐떒뿉꽌 GD 媛믪씠 媛곴컖 0.75 0.79濡 鍮꾧탳쟻 넂 媛믪쓣 蹂댁吏留 룎뿰蹂씠뒗 諛쒖깮븯吏 븡븯쑝硫, 쟾꽭怨 씤援 吏묐떒뿉꽌룄 GD 媛믪씠 媛곴컖 0.69 0.72濡 鍮꾧탳쟻 넂 媛믪쓣 蹂댁吏留 룎뿰蹂씠쑉 媛곴컖 1.19 횞 10-3 1.00 횞 10-3濡 鍮꾧탳쟻 궙 렪씠뿀떎(Table 4). 蹂 뿰援ъ옄쓽 꽑뻾 뿰援(Lee et al., 2023)뿉꽌룄 넂 떎삎꽦(넂 GD 媛)쓣 媛吏뜑씪룄 룎뿰蹂씠쑉 留ㅼ슦 궙 留덉빱媛 議댁옱븯怨, 씠 媛숈씠 GD 媛믨낵 룎뿰蹂씠쑉 鍮꾨븳떎怨 蹂 닔 뾾뿀떎. GD 媛믪 넂吏留 룎뿰蹂씠쑉씠 궙 留덉빱뱾 룞씪遺怨 移쒖” 媛먯젙뿉 쑀슜븳 留덉빱씪 닔 엳쑝硫, 遺꾩꽍 紐⑹쟻뿉 뵲씪 GD 媛믨낵 룎뿰蹂씠쑉쓽 醫낇빀쟻씤 怨좊젮瑜 넻빐 留덉빱瑜 꽑젙븯뒗 寃껋씠 以묒슂븯떎.

蹂 뿰援щ뒗 븳援씤 궓꽦 吏묐떒뿉꽌 遺꾩꽍 移댄뀒怨좊━쓽 留덉빱媛 솗옣맆닔濡 愿李곕릺뒗 븯뵆濡쒗엯쓽 醫낅쪟(洹몃9) 鍮덈룄(媛쒖껜) 닔瑜 젣떆븯怨, 留덉빱媛 솗옣맆닔濡 븯뵆濡쒗엯쓽 醫낅쪟 鍮덈룄 닔媛 以꾩뼱뱶뒗 寃곌낵瑜 愿李고븯떎.

뜑遺덉뼱, 27媛쒖쓽 룞씪븳 留덉빱 닔瑜 媛吏 Y27(1)怨 Y27(2) 븯뵆濡쒗엯쓣 鍮꾧탳븳 寃곌낵, 留덉빱 닔뒗 27媛쒕줈 룞씪븯吏留 룷븿븯怨 엳뒗 留덉빱쓽 RM 뿬遺(쑀臾)뿉 뵲씪(non RM Y-STR: DYS549, DYS643, RM Y-STR: DYF387S1) 븯뵆濡쒗엯 뼇긽씠 떎瑜닿쾶 愿李곕릺뿀떎. Non RM Y-STR씠 룷븿릺뿀쓣 븣뒗 媛옣 留롮씠 愿李곕릺뒗 븯뵆濡쒗엯쓽 鍮덈룄 닔媛 以꾩뿀怨, RM Y-STR씠 룷븿릺뿀쓣 븣뒗 븯뵆濡쒗엯쓽 醫낅쪟쓽 닔媛 媛먯냼븯떎. 뵲씪꽌 떇蹂 紐⑹쟻뿉 뵲씪 쟻젅븳 궎듃 꽑젙 諛 non RM Y-STR 삉뒗 RM Y-STR쓽 꽑蹂꾩쟻 솗옣씠 媛뒫븯떎.

꽑뻾 뿰援щ 룷븿븯뿬 븳援씤 吏묐떒뿉꽌 媛 遺꾩꽍 移댄뀒怨좊━蹂 媛옣 留롮 닔쓽 媛쒖껜媛 怨듭쑀븯怨 엳뒗 븯뵆濡쒗엯쓣 遺꾩꽍븯뿬 젣떆븯뒗뜲, 씠뒗 踰붿즲쁽옣뿉꽌 寃異쒕맂 Y-STR 봽濡쒗븘씠 愿젴씠 뾾뒗 궓꽦 媛꾩뿉 슦뿰엳 씪移섑븷 솗瑜좎쓣 젣떆븯뒗뜲 룄쓣 以 닔 엳쓣 寃껋쑝濡 궗猷뚮릺硫, 듅엳 遺遺 봽濡쒗븘씠 寃異쒕릺뿀쓣 븣 Y-STR 寃곌낵쓽 떇蹂꾨젰쓣 怨좊젮븯뒗뜲 룄씠 맆 寃껋쑝濡 궗猷뚮맂떎.

삉븳, 蹂 뿰援щ 넻빐 踰뺢낵븰쟻 遺꾩꽍 紐⑹쟻뿉 뵲瑜 솗옣 留덉빱 꽑蹂꾧낵 긽슜솕 궎듃 꽑젙쓽 븘슂꽦뿉 븳 洹쇨굅 옄猷뚮 젣떆븯怨좎옄 븯떎. 쁽옣利앷굅臾쇱뿉꽌 Y-STR 븯뵆濡쒗엯쓽 떇蹂꾨젰쓣 넂씠湲 쐞빐, PPY23怨 Yfiler Plus瑜 援먯감 遺꾩꽍븯뿬 GD 媛믪씠 넂 5媛쒖쓽 RM Y-STR (DYS627, DYF387S1, DYS449, DYS518)媛 솢슜맆 닔 엳떎. 븯吏留 쁽옣利앷굅臾 떆猷뚯쓽 뼇쟻 븳怨꾩 궎듃쓽 꽦뒫씠 媛숈씠 怨좊젮릺뼱빞 븯硫, 떇蹂꾨젰씠 넂 Y-STR 留덉빱뱾쓣 븳 踰덉뿉 떎以 利앺룺븷 닔 엳뒗 떆뒪뀥쓽 븳誘쇨뎅 옄泥 媛쒕컻씠 븘슂븯떎. 뜑遺덉뼱, 떇蹂꾨젰씠 넂 留덉빱뒗 븳援씤 吏묐떒 궡 GD 媛믨낵 룎뿰蹂씠쑉쓣 醫낇빀쟻쑝濡 뙋떒븯뿬 꽑젙빐빞 븳떎. 遺덉긽蹂궗옄 諛 웾옱궃씗깮옄 떊썝솗씤쓣 쐞븳 移쒖” 愿怨 궡 룞씪遺怨 遺꾩꽍뿉꽌뒗 룎뿰蹂씠濡 씤븳 옒紐삳맂 諛곗젣瑜 理쒖냼솕빐빞 븯誘濡 RM Y-STR뒗 젣쇅맆 븘슂媛 엳떎.

蹂 뿰援щ뒗 29媛쒖쓽 Y-STR 留덉빱瑜 룷븿븳 Ymax源뚯 솗옣븿쑝濡쒖뜥 븳援씤 吏묐떒 궡 Y-STR 븯뵆濡쒗엯쓽 떇蹂꾨젰 蹂솕 諛 RM Y-STR씠 誘몄튂뒗 쁺뼢쓣 遺꾩꽍븯怨, 씠瑜 넻빐 踰뺢낵븰쟻 遺꾩꽍 紐⑹쟻뿉 뵲瑜 留덉빱쓽 쟻젅븳 꽑蹂꾩뿉 룄쓣 以 寃껋쑝濡 湲곕븳떎. 뜑遺덉뼱, 븳援씤뿉寃 留롮씠 愿李곕릺뒗 Y-STR 븯뵆濡쒗엯쓣 젣떆븯뿬 DNA 媛먯떇쓽 넻怨꾩쟻 빐꽍뿉 愿븳 洹쇨굅옄猷뚮줈꽌 솢슜맆 닔 엳쓣 寃껋씠떎.

ACKNOWLEDGEMENT

This work was supported by the Korean Government and the Forensic Research Program of the National Forensic Service (NFS) [grant number NFS2023DNA03].

CONFLICT OF INTEREST

The authors declare that they have no conflict of interest.

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