Zhang Meng, Han Yuechen, Zhang Fengguo, Bai Xiaohui, Wang Haibo
a Department of Otolaryngology-Head and Neck Surgery , Shandong Provincial ENT Hospital, Shandong Provincial ENT Hospital Affiliated to Shandong University , Jinan , P.R. China.
b Key Laboratory of Otorhinolaryngology, National Health Commission (Shandong University) , Jinan , P.R. China.
Acta Otolaryngol. 2019 Jul;139(7):612-617. doi: 10.1080/00016489.2019.1609699. Epub 2019 May 20.
: Although, half of the childhood deafness is genetically related, the molecular etiology of hearing impairment has not been demonstrated explicitly. In addition, the mutation spectrums of deafness genes vary among different areas and ethnics. : To know more about the mutation spectrums of deafness genes in China, we tested the mutations of three common deafness genes (, , and ) in a particular deafness population from Heze area. SNPscan technology was utilized to perform mutation screening for these three common deafness genes in 314 nonsyndromic deaf patients from Heze area. 38.21% (120/314) of these 314 patients with nonsyndromic hearing loss from Heze area were related to the genetic defects in these three deafness genes, including 20.06% (63/314) for , 15.29% (48/314) for and 2.87% (9/314) for . Furthermore, the mutation hotspots in three deaf genes were 235delC, c.919-2A > G, and 1555A > G, respectively, distinct from hotspots reported in other regions worldwide. Our results disclosed a special and unique mutation spectrum of these three common deaf genes in Heze deaf population.
虽然儿童期耳聋有一半与遗传相关，但听力障碍的分子病因尚未明确证实。此外，耳聋基因的突变谱在不同地区和种族之间存在差异。为了更深入了解中国耳聋基因的突变谱，我们对菏泽地区一个特定耳聋人群的三个常见耳聋基因（、和）进行了突变检测。利用SNPscan技术对菏泽地区314例非综合征性耳聋患者的这三个常见耳聋基因进行突变筛查。菏泽地区这314例非综合征性听力损失患者中，38.21%（120/314）与这三个耳聋基因的遗传缺陷有关，其中基因占20.06%（63/314），基因占15.29%（48/314），基因占2.87%（9/314）。此外，三个耳聋基因的突变热点分别为235delC、c.919 - 2A＞G和1555A＞G，与世界其他地区报道的热点不同。我们的研究结果揭示了菏泽耳聋人群中这三个常见耳聋基因特殊而独特的突变谱。
