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Published: 2025-12-30
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DOI: https://doi.org/10.52852/tcncyh.v197i12.4214
Issue
Vol. 197 No. 12 (2025)
Section
Các bài báo
How to Cite
Thạo, T. V., Mai, T. T. C., Mai, Đặng T. T., Thuỳ, N. D., Thuý, N. T. P., & Dung, T. T. P. (2025). Primer Design and PCR Optimization for Full-Exon Amplification of the CPT1A Gene to Support Genetic Diagnosis of Carnitine Palmitoyltransferase 1A Deficiency in Vietnam. Journal of Medical Research, 197(12), 463-470. https://doi.org/10.52852/tcncyh.v197i12.4214

Primer Design and PCR Optimization for Full-Exon Amplification of the CPT1A Gene to Support Genetic Diagnosis of Carnitine Palmitoyltransferase 1A Deficiency in Vietnam

Ta Van Thao, Tran Thi Chi Mai, Dang Thi Thanh Mai, Nguyen Dieu Thuy, Nguyen Thi Phuong Thuy, Trinh Thi Phuong Dung

Main Article Content

Abstract

Characterization of Carnitine Palmitoyltransferase 1A gene by  Sanger sequencingCarnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare inherited metabolic disorder causing energy deficiency due to impaired transport of long-chain fatty acids into mitochondria. In Vietnam, no  study on CPT1A gene characteristics have been published. This study designed 19 specific primer pairs to amplify all exons of the CPT1A gene and optimized PCR conditions (primer concentration 0.5 µmol/L, annealing temperature 55°C) for Sanger sequencing. Results showed successful amplification of all 19 exons, with cycle threshold (Ct) values ranging from 16.105 to 23.441 and clear PCR products (228 – 458bp). This study establishes a foundation for genetic diagnosis of CPT1A deficiency in Vietnam, supporting early screening and genetic counseling, and paving the way for clinical applications and integration with Sanger or Next Generation Sequencing (NGS).

Article Details

Keywords

CPT1A deficiency; CPT1A gene; primer design; PCR optimization; Sanger sequencing; NGS

References

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