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Date Published: 17/02/2023
Abstract Views: 206
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DOI: https://doi.org/10.51298/vmj.v520i2.4200
Issue
Vol. 520 No. 2 (2022)
Section
Các bài báo
How to Cite
Nguyễn, T. P. T., Nguyễn, T. T. V. ., Tạ, V. T., Trịnh , T. P. D., & Bùi, T. B. . (2023). PREPARING PRIMERS FOR IDENTIFYING THE SLC22A5 GENE MUTATION IN PRIMARY CARNITIN DEFICIENCY. Vietnam Medical Journal, 520(2). https://doi.org/10.51298/vmj.v520i2.4200

PREPARING PRIMERS FOR IDENTIFYING THE SLC22A5 GENE MUTATION IN PRIMARY CARNITIN DEFICIENCY

Thị Phương Thúy Nguyễn1,, Thị Thảo Vi Nguyễn2, Văn Thạo Tạ3, Thị Phương Dung Trịnh 3, Thị Bảo Bùi
1 Hanoin medical university
2 Xanh pon hospital
3 Hanoi medical university

Main Article Content

Abstract

Primary systemic carnitine deficiency (PSCD) is caused by defects in OCTN2 function as a result of mutations in the SLC22A5 gene. Systemic primary carnitine deficiency (CDSP) presents episodic periods of hypoketotic hypoglycemia. The main symptoms of CDSP are episodic periods of hypoketotic hypoglycemia, skeletal and cardiac myopathy [1]. The disease brings serious complications including death if not treated promptly. Patients with primary carnitin deficiency often respond well to oral L-carnitin supplementation and significantly improve their clinical symptoms [3]. Therefore, early diagnosis and timely intervention are very important for patients with primary carnitin deficiency. The analysis of the carnitin-encoding gene SLC22A5 has diagnostic value in determining primary carnitin deficiency because this technique accurately identifies mutations in the SLC22A5 gene that directly affect carnitin protein synthesis. In Vietnam, currently, to identify the SLC22A5 gene mutation, mainly using primer sets referenced from previous studies in the world, but still encountering non-specificity about primers, making it difficult to identify mutations. This study focuses on the design and optimization of specific primers in identifying the SLC22A5 gene mutation causing primary carnitin deficiency in Vietnamese.

Article Details

Keywords

Primary systemic carnitine deficiency; PSCD; SLC22A5; OCTN2; fatty acid oxidation; PCR primer.

References

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