%0 Journal Article
%T 一对双胞胎脑瘫患儿全基因组测序分析<br>Whole genome sequencing analysis of a pair of twins with cerebral palsy
%A 朱庆文
%A 周
%A 翔
%A 倪玉飞
%A 王
%A 婧
%A 印洪刚
%A 张
%A 勤
%A 卞文君
%A 张玲莉
%A 林孟思
%A 刘江悦
%A 周
%A 君
%A 沙春秀
%J 郑州大学学报（医学版）
%D 2018
%R 10.13705/j.issn.1671-6825.2018.07.017
%X 目的:利用全基因组测序(WGS)技术分析一对双胞胎脑瘫患儿的遗传学病因。方法:采用WGS技术对一对双胞胎脑瘫患儿进行检测,同时对其父母进行了基因芯片的验证试验。结果:共发现30个与脑瘫有关联的基因,其中相关热点的基因有人类转录激活因子蛋白4、GAD1、ADD3等; 在KANK1外显子区域发现一个共有的SNP突变; 在2号染色体上发现有大约120 kb的重复,14号染色体上有大约280 kb和540 kb的缺失; 14号染色体片段异常来自母亲。结论:脑瘫遗传因素复杂,可能由多个基因诱发; WGS技术适用于脑瘫的遗传学研究。<br>Aim:To analyze a pair of twins with cerebral palsy by whole genome sequencing(WGS)technique.Methods:A pair of twins with cerebral palsy were subjected to WGS. The parents were tested on a microarray.Results:A total of 30 genes associated with cerebral palsy were found.The related hot genes included human transcription activator protein 4,GAD1, ADD3, etc,and a common SNP mutation was found in the exon region of KANK1.The duplication of 120 kb on chromosome 2 and deletion of 280 kb and 540 kb on chromosome 14 was found, respectively. Abnormal chromosome 14 comes from mother.Conclusion:The genetic factors of cerebral palsy is complex, and cerebral palsy may be induced by multiple genes. WGS is an appropriate technique for the study of cerebral palsy
%K 脑瘫
%K 双胞胎
%K 全基因组测序
%K 生物信息学分析&lt
%K br&gt
%K cerebral palsy
%K twins
%K whole genome sequencing
%K bioinformatics analysis
%U http://jms.zzu.edu.cn/oa/darticle.aspx?type=view&id=201806024