A novel approach of kinship determination based on the physical length of genetically shared regions of chromosomes

Cho Sohee; Shin Eunsoon; Park Yoon Gi; Choi Seung Ho; Choe Eun Kyung; Bae Jung Ho; Lee Jong-Eun; Lee Soong Deok

doi:10.1007/s13258-023-01485-4

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저자정보: Cho Sohee (Seoul National University Medical Research Center) Shin Eunsoon (DNA Link, Inc) Park Yoon Gi (DNA Link, Inc) Choi Seung Ho (Seoul National University Hospital Healthcare System Gangnam Center) Choe Eun Kyung (Seoul National University Hospital Healthcare System Gangnam Center) Bae Jung Ho (Seoul National University Hospital Healthcare System Gangnam Center) Lee Jong-Eun (DNA Link, Inc) Lee Soong Deok (Seoul National University Medical Research Center)

저널정보: 한국유전학회 Genes & Genomics Genes and Genomics Vol.46 No.5

발행연도: 2024.5

수록면: 577 - 587 (11page)

DOI: 10.1007/s13258-023-01485-4

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Background Determination of genetic relatedness between individuals plays a crucial role in resolving numerous civil cases involving familial relationships and in forensic investigation concerning missing persons. Short tandem repeats (STRs), known for their high degree of DNA polymorphism, have traditionally been the primary choice of DNA markers in genetic testing, but their application for kinships testing is limited to cases involving close kinship. SNPs have emerged as promising supplementary markers for kinship determination. Nevertheless, the challenging remains in discriminating between third-degree or more distant relatives, such as first cousins, using SNPs. Objective To investigate a kinship analysis method for distant degree of familial relationships using high-density SNP data. Methods A high-density SNP data from 337 individuals of Korean families using Affymetrix Axiom KORV1.0-96 Array was obtained for this study. SNPs were aligned by chromosomal positions, and identity-by-state (IBS) was determined, and then shared regions as consecutive SNPs with IBS of 1 or 2 were investigated. The physical lengths of these IBS segments were measured and summed them to create an Index, as a measure of kinship. Results The kinship was determined by the physical length of shared chromosomal regions that are distinguished by each kinship. Using this method, the relationship was able be distinguished up to the fourth degree of kinship, and non-relatives were clearly distinguished from true relatives. We also found a potential for this approach to be used universally, regardless of microarray platforms for SNP genotyping and populations. Conclusion This method has a potential to determine the different degree of kinship between individuals and to distinguish non-relatives from true relatives, which can be of great help for practical applications in kinship determination.

Background Determination of genetic relatedness between individuals plays a crucial role in resolving numerous civil cases involving familial relationships and in forensic investigation concerning missing persons. Short tandem repeats (STRs), known for their high degree of DNA polymorphism, have traditionally been the primary choice of DNA markers in genetic testing, but their application for kinships testing is limited to cases involving close kinship. SNPs have emerged as promising supplementary markers for kinship determination. Nevertheless, the challenging remains in discriminating between third-degree or more distant relatives, such as first cousins, using SNPs. Objective To investigate a kinship analysis method for distant degree of familial relationships using high-density SNP data. Methods A high-density SNP data from 337 individuals of Korean families using Affymetrix Axiom KORV1.0-96 Array was obtained for this study. SNPs were aligned by chromosomal positions, and identity-by-state (IBS) was determined, and then shared regions as consecutive SNPs with IBS of 1 or 2 were investigated. The physical lengths of these IBS segments were measured and summed them to create an Index, as a measure of kinship. Results The kinship was determined by the physical length of shared chromosomal regions that are distinguished by each kinship. Using this method, the relationship was able be distinguished up to the fourth degree of kinship, and non-relatives were clearly distinguished from true relatives. We also found a potential for this approach to be used universally, regardless of microarray platforms for SNP genotyping and populations. Conclusion This method has a potential to determine the different degree of kinship between individuals and to distinguish non-relatives from true relatives, which can be of great help for practical applications in kinship determination.

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