Full Sibling Testing Based on NGS-SNP Genotyping Method and IBS Strategy.
10.12116/j.issn.1004-5619.2019.02.014
- Author:
Zhi Yuan WANG
1
;
Di Jia WANG
2
;
Ran LI
1
;
Hai Xiao LI
1
;
Na Na WANG
1
;
Hong Yu SUN
3
Author Information
1. Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510089, China.
2. Longhua Branch of Shenzhen Public Security Bureau, Shenzhen 518109, Guangdong Province, China.
3. Foshan Public Security Bureau, Foshan 528000, Guangdong Province, China.
- Publication Type:Journal Article
- Keywords:
forensic genetics;
single nucleotide polymorphism;
sibling relations;
identity by state;
next generation sequencing
- MeSH:
Genotype;
Genotyping Techniques/methods*;
Humans;
Polymorphism, Single Nucleotide/genetics*;
Siblings
- From:
Journal of Forensic Medicine
2019;35(2):205-209
- CountryChina
- Language:English
-
Abstract:
Objective To evaluate the effectiveness of single nucleotide polymorphism （SNP） genoty-ping in combination with identity by state （IBS） strategy in full sibling testing. Methods Thirty-five blood samples were collected from a four-generation family. Ninety autosomal SNPs were genotyped using Precision ID Identity Panel. The distribution of IBS scores for full siblings and other relationships were calculated and compared. The relationships were determined using Fisher discriminant function and threshold method, respectively. Results Based on family members and previous research, 44, 30, 111, 71 and 1 000 pairs of full siblings （FS）, grandparent-grandchild （GG）, uncle/aunt-nephew/niece （UN）, first cousins （FC） and unrelated individuals （UI） were obtained, respectively. The average IBS scores were 148, 130, 132, 124 and 120, respectively. Except for the GG and UN pairs, the distribution differences among the other relationships had statistical significance （P<0.05）. The false rates of Fisher discriminant function to determine relationships were 1.3%, 22.3%, 17.0% and 38.7% for FS, GG, UN and FC, respectively. Based on the simulation data, the thresholds t1=128 and t2=141 were recommended to determine full sibling relationships （the false rate ≤0.05%）. Conclusion The 90 SNP genetic markers included in the Precision ID Identity Panel meet the testing requirements for full sibling relationships. The threshold method based on IBS has a relatively lower false rate and is more flexible.
