Whole-Exome Sequencing for Mutation Detection

Genomic DNA of the patient and her parents was extracted from peripheral blood using the QIAmp Blood minikit (Qiagen, Venlo, the Netherlands). Whole-exome sequencing (WES) was applied to detect mutation. All samples were sequenced on an Illumina platform by Euler Genomics (Beijing, China). Synonymous changes and single nucleotide polymorphisms with minor allele frequency (MAF) higher than 5% were removed. Clinical significance and pathogenicity of the identified variant was interpreted according to the guidelines set by the American College of Medical Genetics (ACMG) [25 (link)], and was further validated by Sanger sequencing. Three-dimensional model of the variant compared with the wild-type was predicted by Swiss model. The human SATB2 cDNA and the mutant SATB2 cDNA with Flag-tag were cloned into pcDNA3.1 expression vector respectively.

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Xin T., Li Q., Bai R., Zhang T., Zhou Y., Zhang Y., Han B, & Yang R. (2021). A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway. Stem Cell Research & Therapy, 12, 595.

Publication 2021

QIAmp Blood minikit

Blood Cdna Genomic Human Mutation Parents Pathogenicity Patient Single nucleotide polymorphisms Vector

Corresponding Organization :

Other organizations : Peking University, Peking University First Hospital

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Variable analysis

independent variables

Genomic DNA of the patient and her parents

dependent variables

Mutation detected by whole-exome sequencing (WES)
Clinical significance and pathogenicity of the identified variant
Three-dimensional model of the variant compared with the wild-type
Expression of the human SATB2 cDNA and the mutant SATB2 cDNA with Flag-tag in pcDNA3.1 expression vector

control variables

Peripheral blood samples used for DNA extraction
Illumina platform used for sequencing
Sanger sequencing used for validation
Wild-type SATB2 cDNA used for comparison

positive controls

Sanger sequencing used to validate the identified variant

negative controls

Wild-type SATB2 cDNA used for comparison with the mutant SATB2 cDNA

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