中文摘要：

目的分析中国一个连续6代常染色体显性遗传性耳聋DFNA41家系的听力学及遗传学特征。方法采用回访调查的方式对家系55位成员进行全身系统检查及临床听力学检测，对部分家系成员采集血样进行候选基因突变筛查。结果该家系所有患者听力损失表现为双侧对称性轻度至重度感音神经性耳聋：40岁以下男性患者听力曲线呈高频下降型；40岁以下女性患者低频受损，听力曲线呈上升型；40岁以上患者，男女均累及全频听力，呈平坦型听力曲线。听力损失程度随着年龄的增长而逐渐加重，至40岁左右时发展为全频中度至重度耳聋。在已完成的11个候选基因突变筛查中，未发现与该家系致病相关的基因突变。结论中国遗传性耳聋DFNA41家系的听力表型与性别及年龄有关，围绕基因型与表型的研究将有助于DFNA41家系致病基因的克隆。

英文摘要：

Objective To report clinical, genetic, and molecular characteristics of a Chinese family with 6 generations demonstrating hearing loss associated with DFNA41. Methods Fifty five subjects in the family were followed up for 10 years after they were mapped for the DFNA41 gene. Blood samples from some of the members were screened for mutation of 11 candidate causative genes. Results In all affected subjects, audiometry showed symmetrical bilateral sensorineural hearing loss of mild to severe degrees. All male affected members presented sloping high frequency hearing loss at young ages, while all female affected members with low frequency loss with ascending patterns at young ages. As the age increased, hearing loss affected all frequencies in both male and female members and showed a flat pattern. DNA se- quencing of coding and exon-intron boundaries of 11 potential inner ear enriched genes in affected subjects did not reveal any disease causing mutation in this DFNA41 family. Conclusion The phenotype of this DFNA41 family appears to be related to the patient＇s gender and age. Further research on the genotype and phenotype of DFNA41 families will help clone the causative gene.