非综合征性耳聋基因GJB2突变患儿与铁缺乏的关系探讨  

The relevance between GJB2 gene mutations of nonsyndromic hearing loss and iron deficiency among children

作　　者：沈志森[1] 张新钢 唐霄雯[3] 杨爱芬[3] 李永燕[3] 叶栋[1] 闫巧儿[1] 管敏鑫[2] 徐炜峰[1] 

机构地区：[1]宁波市医疗中心李惠利医院,浙江宁波315040 [2]宁波市妇女儿童医院,浙江宁波315010 [3]温州医学院生命科学院,浙江温州325000

出　　处：《现代实用医学》2010年第12期1337-1339,1341,共4页Modern Practical Medicine

摘　　要：目的探索非综合征性耳聋患儿基因GJB2突变发生与机体铁缺乏之间的关系。方法对138例临床诊断为非综合征性耳聋的2岁～10岁患儿及120例同年龄听力正常的健康儿童,均进行GJB2耳聋基因及血清铁、血红蛋白含量检测,并对其结果进行相关性分析。结果 34例存在GJB2基因235delC突变,其中18例存在235delC纯合突变,16例存在235delC杂合突变。非综合征性耳聋患儿组血清铁含量、血红蛋白水平与对照组儿童相比,差异均无统计学意义(均P>0.05)。聋儿GJB2基因突变组血清铁、血红蛋白检测值与GJB2基因非突变组及正常对照组相比,差异均无统计学意义(均P>0.05)。结论非综合征性耳聋GJB2基因突变发生与机体铁缺乏之间无明显相关性,有关铁代谢障碍与感音神经性耳聋发生的机制仍有待于进一步研究。Objective To explore the relevance between gene GJB2 mutation of nonsyndromic hearing loss and iron deficiency among children. Methods GJB2 gene, serum iron and hemoglobin were detected in 138 cases of children with nonsyndromic hearing loss and 120 cases of normal control group aged from 2 to 10 years old, and then the relevance analysis was carried out. Results In all of 138 children with nonsyndromic hearing loss, GJB2 gene mutations were detected from 34 cases; among them, 18 cases suffered tom GJB2 gene homozygosis mutation and 16 cases from heterozygosis mutation. Serum iron contents of them were （194.644±23.622） mmol/L, and hemoglobin levels Of them were （11.982±1.878）g/L, and there were no statistic differences in serum iron and hemoglobin of children with hearing loss compared to control group, （P 〉0.05）. Meanwhile, compared to 104 cases of children with no gene mutations and 120 cases of normal control group, there were also no statistic differences（p 〉0.05）in serum iron and hemoglobin among 34 children of hearing loss with GJB2 gene mutations. Conclusions There is no remarkable relevance between gene GJB2 mutation of nonsyndromic hearing loss and iron deficiency among children, and it is necessary to do some further investigations are to explore the relevance between ensorineural hearing loss and iron metabolism.

关 键 词：非综合征性耳聋 铁缺乏 GJB2基因 突变 

分 类 号：R76[医药卫生—耳鼻咽喉科]