High-throughput sequencing platform established by sensor measurement technology for the detection of TSC1 and TSC2 genes in prenatal diagnosis

•Establish TSC gene diagnosis platform by high-throughput sequencing.•Use Sanger sequencing to sequence the proband and his family members.•Apply high throughput sequencing to detect the exon of TSC related gene. This paper studies the correlation between TSC1/TSC2 mutations and phenotypes of tubero...

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Bibliographic Details
Published in:Measurement : journal of the International Measurement Confederation 2020-08, Vol.160, p.107828, Article 107828
Main Authors: Xu, Qiuxia, Wang, Min, Huang, Sujing, Xu, Lin, Guan, Hongqiong, Zhu, Hong
Format: Article
Language:English
Subjects:
Correlation analysis
Diagnosis
Fetuses
Gene sequencing
High-throughput sequencing
Infants
Measurement
Medical diagnosis
Mutation
Prenatal diagnosis
Sensors
TSC1
TSC2
Tuberous sclerosis
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Summary:•Establish TSC gene diagnosis platform by high-throughput sequencing.•Use Sanger sequencing to sequence the proband and his family members.•Apply high throughput sequencing to detect the exon of TSC related gene. This paper studies the correlation between TSC1/TSC2 mutations and phenotypes of tuberous sclerosis (TSC) gene in prenatal diagnosis based on sensor measurement technology high-throughput sequencing platform. The paper mainly performs sensor measurement technology-based high-throughput sequencing of the gene coding region of TSC1/TSC2 and adjacent intron regions of 10 familial probands with clinical diagnosis of tuberous sclerosis. High-throughput sequencing was used to validate the discovered gene mutations and prenatal diagnosis for disease-causing mutations. The results of the study found that 10 cases of probands found TSC1/TSC2 mutations, including 1 case of TSC1 mutation, 9 cases of TSC2 mutation, 9 cases of missense mutations in 6 cases, 2 cases of nonsense mutations, frame shift 1 case of mutation. Further, 9 prenatal diagnoses were made for the mother, and one mutant positive foetus was found. The research has found that the high-throughput sequencing platform based on sensor measurement technology can effectively verify and detect gene mutations, which has certain advantages and effectiveness. Therefore, it can be widely used in clinical diagnosis and treatment of gene mutations, which is effective for preventing gene mutations in postpartum infants.
ISSN:0263-2241
1873-412X
DOI:10.1016/j.measurement.2020.107828