In:
Science & Technology Development Journal - Health Sciences, Viet Nam National University Ho Chi Minh City, ( 2020)
Abstract:
Background: Rett syndrome is a rare disease but affecting severe brain dysfunction. The rate of the syndrome is estimated to be 1/10,000–1/15,000 female births. This disorder is knowledge caused by de novo mutations in the MECP2 gene. More than 80% of patients with Rett syndrome have a point mutations in MECP2. The study correlation genotype-phenotype open to therapeutic opportunities for patients. In Vietnam, to validate the diagnosis, the doctors are mainly clinical diagnostic standards, not include genetics testing. Therefore, optimize the producer to determine MECP2 variations is necessary that provides evidence for clinical diagnosis, supporting the earlystage diagnosis of pediatric patients. Methods: Standardization of the MECP2 gene testing sequence used the healthy control blood samples includes PCR optimization and Sanger sequencing. Read raw sequence data by CLC workbench software. Analysis variations; evaluate the pathogenic of the variants with ACMG standard. After that, the process was applied to 4 pediatric patients with Rett syndrome treated at Children's Hospital II from 01/2019 to 12/2019. Result: We successfully optimized PCR-Sanger sequencing for the testing MECP2 variants gene, especially in exon 1 had high GC-percent ( 〉 65%). The quality sequencing result was quite reliable. We found two pathogenic mutations (p.R294X, p.K29X); and a novel mutation (p.K29X). Conclusion: The process of the test gene MECP2 by PCR technique-Sanger sequencing was optimized completely, and add a novel mutation to the MECP2 variation database.
Type of Medium:
Online Resource
ISSN:
2734-9446
DOI:
10.32508/stdjhs.v1i1.433
Language:
Unknown
Publisher:
Viet Nam National University Ho Chi Minh City
Publication Date:
2020
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