Application of Familial Y-STR Haplotype Mismatch Tolerance in Genealogy Inference.
10.12116/j.issn.1004-5619.2022.520602
- Author:
Meng-Jie TONG
1
;
Ke ZHANG
2
;
Cai-Xia LI
3
;
Guang-Feng ZHANG
3
;
Wen-Jie ZHANG
4
;
Lan YANG
5
;
Qing-Tang HOU
1
;
Jing LIU
3
Author Information
1. Criminal Police Detachment of Hefei Public Security Bureau, Hefei 230000, China.
2. Management Office of Physical Evidence, Department of Public Security of Anhui Province, Hefei 230061, China.
3. Key Laboratory of Forensic Genetics and National Engineering Laboratory for Forensic Science, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China.
4. School of Computer Science, Shaanxi Normal University, Xi'an 710119, China.
5. School of Forensic Medicine, Shanxi Medical University, Jinzhong 030600, Shanxi Province, China.
- Publication Type:Journal Article
- Keywords:
Y chromosome;
family lineage;
forensic genetics;
kinship;
males;
mutation;
short tandem repeats
- MeSH:
Male;
Humans;
Haplotypes;
Chromosomes, Human, Y/genetics*;
Microsatellite Repeats;
Mutation;
Asian People/genetics*;
China;
Genetics, Population
- From:
Journal of Forensic Medicine
2023;39(3):296-304
- CountryChina
- Language:English
-
Abstract:
OBJECTIVES:To provide a guideline for genealogy inference and family lineage investigation through a study of the mismatch tolerance distribution of Y-STR loci in Chinese Han male lineage.
METHODS:Three Han lineages with clear genetic relationships were selected. YFiler Platinum PCR amplification Kit was used to obtain the typing data of 35 Y-STR loci in male samples. The variation of Y-STR haplotypes in generation inheritance and the mismatch tolerance at 1-7 kinship levels were statistically analyzed.
RESULTS:Mutations in Y-STR were family-specific with different mutation loci and numbers of mutation in different lineages. Among all the mutations, 66.03% were observed on rapidly and fast mutating loci. At 1-7 kinship levels, the number of mismatch tolerance ranged from 0 to 5 on all 35 Y-STR loci, with a maximum step size of 6. On medium and slow mutant loci, the number of mismatch tolerance ranged from 0 to 2, with a maximum step size of 3; on rapidly and fast mutant loci, the number of mismatch tolerance ranged from 0 to 3, with a maximum step size of 6.
CONCLUSIONS:Combined use of SNP genealogy inference and Y-STR lineage investigation, both 0 and multiple mismatch tolerance need to be considered. Family lineage with 0-3 mismatch tolerance on all 35 Y-STR loci and 0-1 mismatch tolerance on medium and slow loci can be prioritized for screening. When the number of mismatch tolerance is eligible, family lineages with long steps should be carefully excluded. Meanwhile, adding fast mutant loci should also be handled with caution.
