对胆囊收缩素受体A基因进行深度测序寻找精神分裂症相关位点

Deep Sequencing for Cholecystokinin A Receptor Gene to Get Loci Associated with Schizophrenia

目的对与精神分裂症相关的胆囊收缩素受体A基因(CCKAR)进行深度测序,寻找精神分裂症相关位点。方法采用Haloplex目标富集系统对8个病例样本与8个正常对照样本进行CCKAR区域的深度测序,利用IGV软件去除结果中的假阳性,然后利用Unphased软件进行分析。结果深度测序后得到103个变异位点,其中30个变异位点位于CCKAR基因上,发现了可能与精神分裂症相关的位点rs191275118。结论发现了新的可能与精神分裂症相关的位点,对CCKAR基因研究资料进行了补充。

Objective To find the risk loci on cholecystokinin A receptor gene （CCKAR） -a Schizo- phrenia candidate gene by using the deep sequencing and then analyze the variations. Methods In the present study, 8 schizophrenia patients and 8 healthy controls were recruited. After DNA extraction from peripheral blood, we conducted deep sequencing on CCKAR region by HaloPlex Target Enrichment System （Agilent） . We used Unphased software to exclude the false positive. Results After deep sequencing, we got 103 loci, a- mong which 30 were located in CCKAR gene. Besides, the SNP rs191275118 was found to be associated with schizophrenia. Conclusions A new variation that may be associated with schizophrenia was found. The deep se- quencing is effective to find genetic variation.