安徽医科大学学报2016，Vol.51Issue(5)：686-690,691,6.
应用微阵列比较基因组杂交技术探讨颅部神经管畸形与基因组拷贝数变异的相关性
Application of microarray comparative genomic hybridization to investigate the relationship between cranial neural tube defects and genomic copy number variations
摘要
Abstract
Objective To investigate the pathogenic role of genomic copy number variations( CNVs) in the cranial neural tube defects,the genomic CNVs were screened in the cases with cranial neural tube defects and matched con-trols using microarray comparative genomic hybridization ( Array-CGH) . Methods The genomic DNA from 51 ca-ses with cranial neural tube defects cases and 75 matched controls were subjected for whole genome CNVs analysis via the Oligo 244 k microarray chip. For genomic CNVs detected, the database of genomic variants was used as a filter to remove the benign polymorphic CNVs. To the remained non-polymorphic CNVs, non-polymorphic genic CNVs or non-polymorphic ciliogenic CNVs were named depending on whether the non-polymorphic CNVs contained a reference gene or a cilia gene. Then χ2 test was applied to analyze the correlation between genomic CNVs and cranial neural tube defects. Results 48 and 33 non-polymorphic CNVs were detected in cases and controls respec-tively. Among them, 37 and 26 CNVs involved genes (non-polymorphic genic CNVs). Significantly more non-polymorphic CNVs and non-polymorphic genic CNVs were detected in cranial neural tube defects patients than in the control (52. 9% vs 32. 0%, P<0. 05;49. 0% vs 26. 6%, P<0. 05). Non-polymorphic genic CNVs were as-sociated with a 2. 644-fold increased risk for cranial neural tube defects ( OR =2. 644 ) . Conclusion Evidence from the genome-wide CNV study suggests that genic CNVs are associated with cranial neural tube defects.关键词
微阵列比较基因组杂交/颅部神经管畸形/基因组拷贝数变异Key words
array comparative genomic hybridization/cranial neural tube defects/genomic copy number varia-tions分类
医药卫生引用本文复制引用
汪静,郭柳,蔡春泉,陈晓丽,谢华,赵慧智,吴佰林,张霆,姜宏..应用微阵列比较基因组杂交技术探讨颅部神经管畸形与基因组拷贝数变异的相关性[J].安徽医科大学学报,2016,51(5):686-690,691,6.基金项目
国家自然科学基金(编号:81370708、81401207) （编号:81370708、81401207）
天津市应用基础与前沿技术研究计划(编号:14JCYBJC25000) （编号:14JCYBJC25000）
天津市卫生行业重点攻关项目(编号:12KG116) （编号:12KG116）
天津市卫计委科技基金(编号:2015K1212) （编号:2015K1212）
