GRIN3B gene mutation screening in children with Tourette syndrome
10.3760/cma.j.issn.2095-428X.2018.24.011
- VernacularTitle:Tourette综合征患儿GRIN3B基因突变筛查
- Author:
Yixia GUO
1
;
Wenmiao LIU
;
Ru ZHANG
;
Xueying FENG
;
Shiguo LIU
;
Mingji YI
Author Information
1. 266003,青岛大学附属医院儿童保健科
- Keywords:
Tourette syndrome;
Glutamate;
GRIN3B gene;
Gene mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(24):1886-1889
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the association between the GRIN3B gene and Tourette syndrome (TS) in children by screening mutations in the coding region of this gene.Methods Fifty-one children with TS and their parents in the Affiliated Hospital of Qingdao University from October 2015 to November 2016 were selected as an experimental group,41 cases of boys,and 10 cases of girls,aged 6-16 years[(9.78 ±3.64)years],while 60 people aged 22-45 years in the health examination center were selected in the control group,49 cases were male,1 1 cases were female,aged 22-45 years [(29.08 ± 2.89) years].DNA was extracted from 51 patients with TS,their parents and 60 controls.PCR was applied to amplify the encoding region of GRIN3B gene and Sanger sequencing was used to sequence,then GRIN3B sequencing results were compared with the NCBI gene encoding region sequence (NM_138690.2)to test whether these patients carried gene mutation and to verify the findings from their family.Results c.C460T gene variant of GRIN3B was found in 2 patients (p.P154S);c.T1187C (p.L396S) variant of GRIN3B gene was found in 10 patients and both of abnormal GRIN3B sites lead to changes in amino acid.The 2 peak sequencing maps were obtained by Sanger sequencing but nothing was found in their parents.Conclusion The mutation of GRIN3B gene may be related to the development of TS.
