GIẢI TRÌNH TỰ SANGER PHÁT HIỆN ĐỘT GEN PARK7 TRÊN BỆNH NHÂN PARKINSON KHỞI PHÁT SỚM

Abstract

Introduction: Parkinson's disease (PD) is a multifactorial disease. The pathogenesis of PD might result from gene-gene interaction, susceptible alleles, environmental factors, or interactions between genes and environmental factors, thereby affecting the nervous system. PARK7 gene is located on chromosome 1, encode for DJ-1 protein. Mutations of PARK-7 gene cause autosomal recessive forms of PD. This study aims to investigate mutations in the PARK7 gene for better understanding of genetic characteristics of Vietnamese Parkinson's patients. Objective: To standardize sequencing protocol for detecting PARK7 gene mutations in 20 early-onset Parkinson's patients. Methods: Peripheral blood samples were collected in 20 early-onset Parkinson’s patients. Genomic DNA was extracted, primers were designed and the protocol for PARK7 gene sequencing was developed. The sequencing results were aligned with PARK 7 reference sequence in the National Center for Biotechnology Information. Results: Appropriate primers were designed, PCR and sequencing protocol were standardized to successfully amplify and sequenced 7 exons of PARK7 gene. One heterozygous variant c.103G>A (p. Val35Ile) was detected. Conclusion: The research has designed primer pairs with high specificity, amplifying the target exons through PCR and sequencing results. Sanger sequencing process of all exons of PARK7 gene were optimized. This study will pave the way for further studies on other genetic causes of PD