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Date Published: 24/03/2023
Abstract Views: 281
Views PDF: 119
DOI: https://doi.org/10.51298/vmj.v524i1B.4766
Issue
Vol. 524 No. 1B (2023)
Section
Các bài báo
How to Cite
Đinh , T. L. ., & Trần , V. K. . (2023). DIAGNOSIS OF DUCHENNE CARRIERS USING MOLECULAR GENETICS TECHNIQUE. Vietnam Medical Journal, 524(1B). https://doi.org/10.51298/vmj.v524i1B.4766

DIAGNOSIS OF DUCHENNE CARRIERS USING MOLECULAR GENETICS TECHNIQUE

Thúy Linh Đinh 1, Vân Khánh Trần 2,
1 Hanoi Obstetrics & Gynecology Hospital,
2 Hanoi medical university

Main Article Content

Abstract

Duchenne muscular dystrophy (DMD) is the most common inherited neuromuscular disease in the muscular dystrophy pathology’s group. This recessive genetic disease is linked to the chromosome X, therefore the diagnosis of the pathologic gene’s carriers for female members in the family of DMD patients play important role in the genetic counseling before birth. This also allows early detections of fetuses in case the pregnant women are at risk. Ojectives: To apply whole genome sequencing (WGS) and MLPA technique in the diagnosis of DMD carriers for 85 females in DMD families. Methods and Subjects: Cross sectional, descriptive study. WGS was performed to confirm the carriers of point mutations on Dystrophine gene, MLPA technique was performed to confirm the carriers of duplication, deletion mutations on Dystrophine gene for females. Results: 52 female members are carriers, accounting for 61%; 33 females do not carry pathologic genes, accounting for 39%. Conclusions: MLPA and WGS could be applied successfully in the diagnosis of DMD carriers in current era.

Article Details

Keywords

DMD, whole genome sequencing, carrier

References

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