本文選題：常染色體顯性遺傳 + 遺傳性聾��； 參考：《中華耳科學(xué)雜志》2014年01期

【摘要】：目的分析一個連續(xù)5代遺傳的常染色體顯性遺傳性聾家系的臨床聽力學(xué)及遺傳學(xué)特征。方法對一個常染色體顯性遺傳高頻感音神經(jīng)性聾家系成員進(jìn)行全面體檢及臨床聽力學(xué)檢查,整理、分析家系資料,確定遺傳規(guī)律,繪制遺傳圖譜并進(jìn)行聽力學(xué)特征分析。應(yīng)用Sanger測序技術(shù)對該家系成員進(jìn)行候選基因鑒定。結(jié)果該耳聾家系遺傳方式為常染色體顯性遺傳,發(fā)病年齡各代間較穩(wěn)定,在30-45歲之間。聽力學(xué)表型為代代相傳、遲發(fā)性、漸進(jìn)性的中度至重度聽力損失,患者早期以高頻聽力下降為主,隨著年齡增長逐漸累及全頻聽力。應(yīng)用Sanger測序技術(shù)進(jìn)行候選基因鑒定,未發(fā)現(xiàn)致聾突變位點(diǎn)。結(jié)論該家系遺傳學(xué)特征符合常染色體顯性遺傳方式,聽力學(xué)具有早期高頻聽力下降并逐漸累及全頻的特征,在候選基因中進(jìn)行測序未發(fā)現(xiàn)致聾突變位點(diǎn)。因此希望通過對家系進(jìn)一步的表型分析或者運(yùn)用新一代測序技術(shù),可以找到該家系的致聾基因。
[Abstract]:Objective to analyze the clinical and genetic characteristics of autosomal dominant hearing loss in a family of 5 consecutive generations. Methods A family member with autosomal dominant high-frequency sensorineural hearing loss was examined by physical examination and clinical audiology examination. The candidate genes were identified by Sanger sequencing. Results the genetic pattern of the deafness family was autosomal dominant, and the age of onset of deafness was stable between 30 and 45 years old. The phenotype of audiology was transmission from generation to generation, late onset and progressive moderate to severe hearing loss. The main early stage of hearing loss in patients was high frequency hearing loss, and with the age increasing, full frequency hearing was gradually involved. Sanger sequencing technique was used to identify the candidate gene and no deafness mutation site was found. Conclusion the genetic characteristics of this pedigree are in accordance with autosomal dominant inheritance pattern. Audiology has the characteristics of early high frequency hearing loss and gradual involvement of full frequency. No deafness mutation site was found in the sequencing of candidate genes. It is hoped that the deafness gene can be found by further phenotypic analysis or new generation sequencing.
【作者單位】： 解放軍總醫(yī)院耳鼻咽喉頭頸外科耳鼻喉科研究所;南開大學(xué)醫(yī)學(xué)院;
【分類號】：R764.43

【參考文獻(xiàn)】

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本文編號：1916645