中国循证儿科杂志2016，Vol.11Issue(3)：204-209,6.DOI:10.3969/j.issn.1673-5501.2016.03.009
基于单中心儿童样本库人群全外显子组数据的致病突变携带者分析
Carrier analysis of known disease-causing genes based on WES data from single Shanghai pediatric center
摘要
Abstract
Objective By comparing genotype frequencies among public population databases and single pediatric center,the carrier frequency of autosomal recessive disease-causing genes was acquired in Translational Medicine Center of Children's Hospital of Fudan University (TMCCHFU).These carrier frequencies could be used as a reference to estimate the Chinese population carrier frequency,and would provide essential information for the design of Chinese-specific disease-causing gene carrier screen panel.Methods The disease-causing autosomal recessive genes from OMIM,and known pathogenic disease-causing mutations from ClinVar and HGMD were summarized.The carrier frequency of disease-causing genes was calculated using local population data and public population databases seperately,and then compared with each other in further studies.Results The public database were filtered and 60 209 pathogenic mutations on 1 368 autosomal recessive disease-causing genes were found,and 1 016 of mutations on 408 genes were identified in 1 147 WES datasets from TMCCHFU.Compared with ExAC East Asian population (4 312 samples) and ExAC European population (33 301 samples),population-specific mutations were identified in each of the populations.Carrier frequencies in TMCCHFU showed more similarity with ExAC East Asian population than European population.Among genes with carrier frequency higher than 1％,70 out of 81 genes (86.4％) from TMCCHFU overlapped with 70 out of 102 genes (68.6％) from ExAC East Asian population,while 37 out of 81 genes (45.7％) overlapped with 37 out of 136 genes (27.2％) from ExAC European population.Conclusiorn Through comparison with ExAC East Asian and European population,carrier frequency of disease-causing genes identified in TMCCHFU is much more similar with East Asian population than European population.The difference of carrier frequency among populations should not be ignored and makes it necessary to establish a Chinese-specific panel for genetic disease screen.关键词
全外显子组测序/遗传病/携带者/突变筛查Key words
Whole exome sequencing/Genetic disease/Carrier/Mutation screening引用本文复制引用
林伊凤,王慧君,吴冰冰,杨琳,董辰,卢宇蓝,周文浩..基于单中心儿童样本库人群全外显子组数据的致病突变携带者分析[J].中国循证儿科杂志,2016,11(3):204-209,6.基金项目
2016上海市青年科技英才扬帆计划:16YF1401000 （）
2016上海自然科学基金探索类项目:16ZR1446500 （）
