Cloning and Identification of a Novel Splice Variant of Human FRMD7

作     者：Department of Neurology,Second Affiliated Hospital,College of Medicine,Zhejiang University,Hangzhou 310009,China Zhirong liu Shanhu xu Yaping yan Baorong zhang National Lab of Medical Genetics of China,Central South University,Changsha 410078,China Zhiguo xie Xiaoyun xie Kun xia 

会议名称：《2009年浙江省神经病学学术年会》

会议日期：2009年

学科分类：1001[医学-基础医学(可授医学、理学学位)] 10[医学] 

摘      要：FRMD7,the gene of a novel member of the FERM family,was found to cause X-linked congenital motor nystagmus(XL-CMN).Initial studies using in situ hybridization revealed restricted expression in human embryonic brain and developing neural retina,whereas no transcripts were detected and the real molecular function is still *** our research,we identified occasionally a novel splice variant of human FRMD7 termed as FRMD7-zju(bankit1182576 FJ717411),which the encoding sequences has 2100 base pairs,lacks the first 45bp of exon 4(206-250bp in the CDS sequence),resulting in 16 amino acids missing,and an addedMet*** may occur with the tissue difference、ethnic difference or just unknown hidden ***,we constructed the fusion plasmid with pEGFP successfully.