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Date Published: 20/06/2022
Abstract Views: 260
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DOI: https://doi.org/10.51298/vmj.v514i1.2514
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Vol. 514 No. 1 (2022)
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Vân Anh, T. ., Thị Quyên, L. ., Trung Hiếu, Đậu ., & Thị Trang, N. . (2022). APPLICATION OF NEXT-GENERATION SEQUENCING (NGS) IN DIAGNOSING THE CAUSES OF AUTISM SPECTRUM DISORDER IN CHILDREN. Vietnam Medical Journal, 514(1). https://doi.org/10.51298/vmj.v514i1.2514

APPLICATION OF NEXT-GENERATION SEQUENCING (NGS) IN DIAGNOSING THE CAUSES OF AUTISM SPECTRUM DISORDER IN CHILDREN

Trần Vân Anh1, Lê Thị Quyên1, Đậu Trung Hiếu1, Nguyễn Thị Trang1,
1 Hanoi Medical University

Main Article Content

Abstract

Objectives: Investigating the rate of patients with MTHFR C677T and MTHFR A1298C polymorphisms in children with autism spectrum disorder and evaluating the role of Next-generation sequencing NGS in diagnosing causes of autism spectrum disorder. Subjects and method: A cross-sectional descriptive study was conducted on 50 children diagnosed with autism spectrum disorder according to DSM – IV at the Department of Medical Biology and Genetics from September 2019 to September 2020. Results: The rates of genotype MTHFR 677 CC/CT/TT in children with autism spectrum disorder were 70%/26%/4%, respectively. The rates of genotype MTHFR 1298 AA/AC/CC in children with autism spectrum disorder were 28%/60%/12%, respectively. There were 15 different variants in the genes associated with autism spectrum disorder detected by NGS. Conclusion: The rates of genotype MTHFR 677 CC/CT/TT in children with autism spectrum disorder were 70%/26%/4%, respectively. The rates of genotype MTHFR 1298 AA/AC/CC in children with autism spectrum disorder were 28%/60%/12%, respectively. NGS is a useful technique for diagnosing genetic causes of autism spectrum disorder, especially rare variants.

Article Details

Keywords

Autism spectrum disorder, NGS

References

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