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Date Published: 05/07/2023
Abstract Views: 327
Views PDF: 161
DOI: https://doi.org/10.51298/vmj.v527i2.5897
Issue
Vol. 527 No. 2 (2023)
Section
Các bài báo
How to Cite
Tô, M. X. H., Nguyễn, H. T., Nguyễn, T. T. T., Nguyễn, T. A., Hà, M. T., Vũ, T. T., Nguyễn, T. V., Nguyễn, T. M. N., Thái, K. Q., Nguyễn, T. M. L., Lê, L. A., Lại, T. M. T., & Lê, N. H. P. (2023). THE INITIAL RESULTS OF CONTINUOUS CONTROL PROGRAM BECAUSE OF EXTENSIVE GENE MUTATIONS IN WOMEN OF REPRODUCTIVE AGE. Vietnam Medical Journal, 527(2). https://doi.org/10.51298/vmj.v527i2.5897

THE INITIAL RESULTS OF CONTINUOUS CONTROL PROGRAM BECAUSE OF EXTENSIVE GENE MUTATIONS IN WOMEN OF REPRODUCTIVE AGE

Mai Xuân Hồng Tô1, Hữu Trung Nguyễn1,2,, Thị Thanh Trúc Nguyễn1, Tuấn Anh Nguyễn2, Mạnh Tuấn Hà2, Trí Thanh Vũ2, Thụy Vy Nguyễn3, Thị Mỹ Nương Nguyễn4, Kế Quân Thái4, Thị Mỹ Linh Nguyễn4, Lan Anh Lê4, Thị Minh Thi Lại4, Ngọc Hồng Phượng Lê4
1 University of Medicine and Pharmacy at Ho Chi Minh City
2 University Hospital of Medicine and Pharmacy 2
3 HCMUS
4 Ktest . Co

Main Article Content

Abstract

Early diagnosis of congenital hearing loss helps to prevent adverse outcome and improve the quality of life in newborn babies. The implementation of screening program for hearing loss gene mutation not only allows to earlier detect this congential disorder and identify the essential etiology, but it also opens the opportunities for couples to determine the risk of disorders in their next generation as well as to set up effectively treatment plan. Through a survey of 586 genes in 100 reproductive age women (18-45 years old) who visited the University Medical Center branch 2, we obtained the frequency of mutations in the GJB2 gene or Connexin 26 protein with variant c.109G>A (p.Val371le) and c.235delC accounted for 13.6% (CI: 7.79%-10.2%). From the initial report results, the rate of people carrying recessive genes causing congenital hearing loss is quite high. This is the initial screening result, we will continue to report the screening results with a sample size of over 500 reproductive age women in Ho Chi Minh City.

Article Details

Keywords

Carieer Screening, Congenital hearing loss, Gene mutation

References

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