Full Sibling Testing Based on NGS-SNP Genotyping Method and IBS Strategy.
Fa Yi Xue Za Zhi
; 35(2): 205-209, 2019 Apr.
Article
en En, Zh
| MEDLINE
| ID: mdl-31135116
ABSTRACT
ABSTRACT Objective To evaluate the effectiveness of single nucleotide polymorphism ï¼SNPï¼ genoty-ping in combination with identity by state ï¼IBSï¼ 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 ï¼FSï¼, grandparent-grandchild ï¼GGï¼, uncle/aunt-nephew/niece ï¼UNï¼, first cousins ï¼FCï¼ and unrelated individuals ï¼UIï¼ 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 ï¼P<0.05ï¼. 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 ï¼the false rate ≤0.05%ï¼. 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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Polimorfismo de Nucleótido Simple
/
Hermanos
/
Técnicas de Genotipaje
Límite:
Humans
Idioma:
En
/
Zh
Año:
2019
Tipo del documento:
Article