The application of buccal mucosa swab in analysis of gene polymorphism in children with ASD / 中国神经精神疾病杂志
Chinese Journal of Nervous and Mental Diseases
; (12): 424-428, 2014.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-456180
Responsible library:
WPRO
ABSTRACT
Objective To investigate the feasibility of buccal mucosa swab method to isolate genomic DNA for au-tism spectrum disorders (ASD)-related genetic screening. Methods Buccal mucosa swabs and blood were collected from 41 children with ASD. Genomic DNA was extracted from either blood by using a commercial genomic DNA kit or buccal mucosa swab by using phenol-chloroform-isoamyl alcohol method. The concentration, total quality and purity of genomic DNA were compared between these two methods. Genotyping of the ASD-related methylenetetra-hydrofolate reductase (MTHFR) gene C677T locus was analyzed using PCR-restriction enzymatic digestion and sanger sequencing was per-formed for validation. Results The total quality [(5.87±2.58)μg vs. (2.00±0.92)μg] and concentration [(143.25±72.78) mg/L vs. (66.68±24.43) mg/L] of genomic DNA extracted from buccal mucosa swab were higher than that form blood (P0.05). Genotyping analysis of MTHFR was also consistent between these two methods. Conclusion Buccal mucosa swab is a simple, non-invasive and reliable meth-od to obtain genomic DNA, which can partially replace blood for analysis of ASD-related gene polymorphisms.
Full text:
Available
Database:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Nervous and Mental Diseases
Year:
2014
Document type:
Article