The application of buccal mucosa swab in analysis of gene polymorphism in children with ASD
10.3936/j.issn.1002-0152.2014.07.009
- VernacularTitle:颊粘膜拭子检测孤独症谱系障碍儿童相关基因多态性的临床应用
- Author:
Rui DONG
;
Yi LIU
;
Dongmei ZHAO
;
Xiaomeng YANG
;
Yanqing ZHANG
;
Zhongtao GAI
- Publication Type:Journal Article
- Keywords:
Buccal mucosa swab;
Autism spectrum disorder;
Genomic DNA;
MTHFR
- From:
Chinese Journal of Nervous and Mental Diseases
2014;(7):424-428
- CountryChina
- Language:Chinese
-
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 (P<0.05), while the purity was not significantly different between these two methods (P>0.05). 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.
