中华耳科学杂志2011，Vol.9Issue(4)：417-422,6.
特大常染色体显性遗传聋家系听力学特征及候选致病基因突变筛查
Audiological and genetic characteristics of a large Chinese pedigree with dominantly inherited non-syndromic hearing impairment
摘要
Abstract
Objective To investigate the audiological features of a large Chinese family with autosomal dominant hereditary hearing loss and to perform a mutational analysis of candidate genes. Methods After obtaining informed consent from all participants, medical and audiological examinations were performed to rule out any syndromic hearing impairment, and the inheritance mode of the family was evaluated. Genomic DNA was isolated from the peripheral leukocytes of the subjects using the Puregene DNA Isolation Kits. The DNA fragments spanning the entire coding regions of GJB2 and GJB3 genes, and 50 exons in other 23 cloned autosomal dominant deafness genes were PCR amplified using specific primers. Each fragment was purified and subsequently analyzed by direct sequencing. Results The family had 199 members in 7 generations, in which 176 members in 4 generations were alive. Fifty four subjects, including 24 males and 30 females, were found to be hearing-impaired. The mode of inheritance of the family was consistent with the autosomal dominant pattern according to the pedigree. Hearing impairment was found in the second or third decade. Audiograms showed bilateral symmetric, progressive and sensorineural hearing loss which started from high frequencies and quickly expended to mid and low frequencies. We failed to detect any known deafness-associated gene mutations by PCR amplification and direct sequenceanalysis. Conclusions Pedigree analysis suggested an autosomal dominant hereditary pattern in this family. Hearing loss was bilateral symmetric, progressive and sensorineural with late onset. The known deafness loci seem not contributing to the pathogenesis of the hearing loss in this Chinese family, suggesting new gene(s) or mutation(s) involvement.关键词
常染色体显性遗传/耳聋/家系/基因突变Key words
Autosomal dominant inheritance/Hereditary hearing loss/Pedigree/Gene mutation分类
医药卫生引用本文复制引用
陈睿春,刘丞,魏钦俊,鲁雅洁,卢新红,曹新,邢光前..特大常染色体显性遗传聋家系听力学特征及候选致病基因突变筛查[J].中华耳科学杂志,2011,9(4):417-422,6.基金项目
国家自然科学基金(31171217) （31171217）
