摘要
目的 Otospiralin基因是表达于内耳支持细胞 ,该基因表达下调可导致耳聋。本文旨在调查otospiralin这种特异表达于耳蜗组织的基因突变是否会导致人类非综合征性耳聋。方法 采用PCR SSCP的方法 ,对 15 1例先天性耳聋的病例和 1个感音神经性耳聋家系进行otospiralin编码区序列的基因突变位点的筛选。结果 15 0例患者和 5 0例正常人样本有正常PCR扩增产物 ,但SSCP分析没有一例有异常迁移带。结论 表达于耳蜗间质的成纤维细胞的oto spiralin基因没有与耳聋连锁的突变位点。推测这个基因在内耳的表达缺乏可能是毛细胞丢失的主要原因。
Objective Otospiralin is a novel protein that expressed in the supporting cells.It is known that downregulation of otospiralin can cause deafness.The purpose of this paper is to screen the mutation of this gene in unrelated patients of congenital deafness. Methods Using PCR-SSCP assay,we screened the mutation of coding region of otospiralin in 151 congenital deafness patients and 7 patients in a family affected genetic non-syndromic deafness. Results 150 samples were amplified by PCR assay among the 157 cases,but there are no abnormal moving bands were found by SSCP electrophoresis. Conclusion The otospiralin gene mutation is not involved in the congenital deafness.It indicated that the expressing change of gene could be major factor for loss of hair cells in the inner ear.
出处
《中国实验诊断学》
2004年第2期173-175,共3页
Chinese Journal of Laboratory Diagnosis