一对双胞胎脑瘫患儿全基因组测序分析
Whole genome sequencing analysis of a pair of twins with cerebral palsy

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。
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