关键词: 遗传性耳聋；家系收集；基因组DNA

Abstract:

Objectives   To offer experiences for  collection and storage of genetic information via analyzing the methods for hereditary hearing loss family pedigree. Methods   We collected the pedigrees of deafness from Disabled Federation at all levels， special school， outpatient department of  E.N.T.  and other channels. To the members of these families， we performed questionnaire survey，specialized examination,pedigree tree plotting. On the basis of informed consent， we collected peripheral blood samples， extracted the genomic DNA and established the digital management model for these data. Results   We collected 40 hereditary pedigrees and obtained their detailed clinical information， audiometry data，blood samples and genomic DNA. We also systemically sorted out and stored electronic and printed version of these data with digital management. Conclusion   Hereditary hearing loss is diverse and heterogeneous. However， there has been a decreasing tendency in pedigrees resources. It is of great urgency to coordinate and utilize multidisciplinary approaches for data collection and storage.

Key words:  Hereditary hearing impairment； Collection of Pedigrees； Genomic DNA