Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families
Abstract
:1. Introduction
2. Materials and Methods
2.1. Subjects
2.2. Analysis for Copy Number Variations (CNVs)
2.2.1. Validation of CNV by Quantitative Real-Time PCR (qPCR)
2.2.2. Next-Generation Mate Pair Sequencing (MPS)
2.2.3. Validation of Breakpoints (BPs) with Sanger Sequencing
2.3. Whole-Exome Sequencing (WES)
In Silico Prediction of Structural Alternation in Mutated Protein
2.4. Rare Variants Screening through Amplified Fragment Length Polymorphism (AFLP)
3. Results
3.1. CNV Analysis
3.1.1. CNV Confirmation
3.1.2. MPS and Breakpoint Detection
3.1.3. Breakpoint Screening
3.2. Whole-Exome Sequencing
3.3. In Silico Prediction
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Fatima, A.; Abdullah, U.; Farooq, M.; Mang, Y.; Mehrjouy, M.M.; Asif, M.; Ali, Z.; Tommerup, N.; Baig, S.M. Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families. Genes 2021, 12, 1899. https://doi.org/10.3390/genes12121899
Fatima A, Abdullah U, Farooq M, Mang Y, Mehrjouy MM, Asif M, Ali Z, Tommerup N, Baig SM. Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families. Genes. 2021; 12(12):1899. https://doi.org/10.3390/genes12121899
Chicago/Turabian StyleFatima, Ambrin, Uzma Abdullah, Muhammad Farooq, Yuan Mang, Mana M. Mehrjouy, Maria Asif, Zafar Ali, Niels Tommerup, and Shahid M. Baig. 2021. "Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families" Genes 12, no. 12: 1899. https://doi.org/10.3390/genes12121899