[1]朱庆文,周 翔,倪玉飞,等.一对双胞胎脑瘫患儿全基因组测序分析[J].郑州大学学报(医学版),2018,(06):796-800.[doi:10.13705/j.issn.1671-6825.2018.07.017]
 ZHU Qingwen,ZHOU Xiang,NI Yufei,et al.Whole genome sequencing analysis of a pair of twins with cerebral palsy[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2018,(06):796-800.[doi:10.13705/j.issn.1671-6825.2018.07.017]
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一对双胞胎脑瘫患儿全基因组测序分析()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2018年06期
页码:
796-800
栏目:
应用研究
出版日期:
2018-11-20

文章信息/Info

Title:
Whole genome sequencing analysis of a pair of twins with cerebral palsy
作者:
朱庆文周 翔倪玉飞王 婧印洪刚张 勤卞文君张玲莉林孟思刘江悦周 君沙春秀
南通市妇幼保健院(南通大学附属妇幼保健院)产前诊断中心 江苏南通 226006
Author(s):
ZHU QingwenZHOU XiangNI YufeiWANG JingYIN HonggangZHANG QinBIAN WenjunZHANG Lingli LIN MengsiLIU JiangyueZHOU JunSHA Chunxiu
Prenatal Diagnosis Center,Nantong Maternal and Child Health Care Hospital(Maternal and Child Health Care Hhospital of Nantong University), Nantong, Jiangsu 226006
关键词:
脑瘫 双胞胎 全基因组测序 生物信息学分析
Keywords:
cerebral palsy twins whole genome sequencing bioinformatics analysis
分类号:
R742.3
DOI:
10.13705/j.issn.1671-6825.2018.07.017
摘要:
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。
Abstract:
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.

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备注/Memo

备注/Memo:
【基金项目】江苏省卫生和计划委员会江苏省妇幼健康科研项目(F201560)
【作者简介】周翔,通信作者,男,1978年2月生,本科,副教授,研究方向:生物遗传信息分析,E-mail:yiociq417xtxz2@163.com
更新日期/Last Update: 2018-11-20