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Date Published: 13/02/2023
Abstract Views: 421
Views PDF: 133
DOI: https://doi.org/10.51298/vmj.v521i1.4023
Issue
Vol. 521 No. 1 (2022)
Section
Các bài báo
How to Cite
Trần, V. K., & Đinh, T. L. . (2023). IDENTIFICATION OF DYSTROPHIN GENE AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHIN USING SEQUENCING METHOD. Vietnam Medical Journal, 521(1). https://doi.org/10.51298/vmj.v521i1.4023

IDENTIFICATION OF DYSTROPHIN GENE AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHIN USING SEQUENCING METHOD

Vân Khánh Trần1, Thúy Linh Đinh2,
1 Hanoi Medical University
2 Hanoi Obstetrics & Gynecology Hospital,

Main Article Content

Abstract

Duchenne muscular dystrophy (DMD) is X-linked recessive disorders, caused by mutations in the dystrophin gene. A heterozygous mother carrying the mutated dystrophin gene can transfer the diseased gene to 50% of her sons and 50% of her daughters. The detection of a female carrier of mutation in dystrophin gene plays an important role in prenatal diagnosis as well as in genetic counseling in oder to reduce the incidence of the DMD. Objectives: 1) to investigate small/point mutations in dystrophin gene using sequencing method. 2) carrier detection in mother and family member of DMD patients. Methods: 12 DMD patients and their family members (mother and sister) were selected for this study. DNA was extracted from blood of patients, their family members.  Sequencing method was used to identify mutation in dystrophin gene. Results: The results showed that 12/12 patients carrying small/point mutations in dystrophin gene, including 6 DMD patients revealed nonsense and making stop codon; 3 small deletions; 3 splicing site mutations; 8/12 mothers and 3/6 family members were detected as carriers.

Article Details

Keywords

Duchenne muscular dystrophy, carrier detection, sequencing

References

1. Birnkrant D.J., Bushby K., Bann C.M., et al. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol, 17(4), 347–361.
2. Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang, Lingrong Kong (2019). Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy. BMC Med Genet,14, 20(1), 139.
3. Takeshima Y, Yagi M, Yamauchi Y, Nishio H, Matsuo M (2010). Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 55(6), 379-88.
4. Trần Vân Khánh, Tạ Thành Văn (2011). Áp dụng quy trình chẩn đoán trước sinh bệnh loạn dưỡng cơ Duchenne bằng kỹ thuật multiplex ligation-dependent probe amplification. Tạp chí Nghiên cứu Y học, 72(1), 10-16.
5. Trần Vân Khánh, Matsafumi Matsuo và CS (2004). Chẩn đoán 85 bệnh nhân Việt Nam mắc bệnh nhược cơ Duchenne/ Becker bằng phương pháp PCR. Tạp chí Y học Việt Nam. 33-38.
6. Gatta V., Scarciolla O., Gaspari A.R. (2005). Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet, 117, 92-98.
7. Nguyễn Thị Băng Sương, Trần Vân Khánh, Nguyễn Hoàng Việt, Nguyễn Thị Hà, Tạ Thành Văn. (2009). Khảo sát tần suất người mẹ mang gen dystrophin bị đột biến mất đoạn ở Việt Nam. Tạp chí Nghiên cứu Y học, 62(3), 105-112.
8. Massalska D., Zimowski J.G., Roszkowski T., et al. (2017). Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders. J Obstet Gynaecol Res, 43(7), 1111–1121.
9. Keeling KM, Bedwell DM (2002). Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and p53 cDNAs in a mammalian translation system. J Mol Med, 80, 367-376.