Mutation analysis on DACT1 gene in children with neural tube defects in northern Chinese Han population
10.11958/20170130
- VernacularTitle:中国北方汉族人群神经管缺陷患儿DACT1基因突变分析
- Author:
Yulian FANG
;
Linsheng ZHAO
;
Ruiping ZHANG
;
Xiufang ZHI
;
Yizheng WANG
;
Lirong CAO
;
Chunquan CAI
- Keywords:
neural tube defects;
mutation;
Han nationality;
DACT1
- From:
Tianjin Medical Journal
2017;45(3):297-300
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the correlation between neural tube defects (NTDs) and DACT1 gene, and provide the basic data for disease diagnosis and genetic counseling. Methods Blood samples were obtained from 163 NTDs patients and 480 unrelated healthy individuals. Mutation detection of DACT1 gene and DNA direct sequencing was carried out by PCR amplification. Bioinformatics analysis of these mutated loci was performed. Results Six mutations were found in NTDs patients, including 4 missense mutations (p.R45W, p.D142G, p.N356K and p.V702G). But these mutations were not found in 480 healthy individuals. Three mutated amino acid residues (p.45R, p.142D and p.356N) were highly conservative in evolution, and the mutated carriers were female patients, and suffered from anencephaly. Conclusion DACT1 gene mutation may be a risk factor of NTDs in Han population of northern China.
