56对育龄夫妻21个常见耳聋基因突变位点检测与分析

发布时间：2018-01-19 23:31

本文关键词： 耳聋基因育龄夫妻遗传咨询　出处：《中国优生与遗传杂志》2016年09期 　论文类型：期刊论文

【摘要】：目的调查育龄夫妻21个常见耳聋基因突变携带率。方法对育龄夫妻进行宣讲,每位受检者在签署知情同意书后,抽取外周血并进行GJB2、GJB3、线粒体DNA、SLC26A4共21个位点的测定。根据检测结果提供遗传咨询与生育指导,并于孕妇生育后进行随访。结果 56对育龄夫妻中共筛查出携带常见耳聋基因突变者6例(5.357%),其中3例携带GJB2突变(2.679%),3例携带SLC26A4突变(2.679%)。未检测出夫妻双方共同携带同一耳聋突变基因者,预测后代出现耳聋的风险为0%。随访到的16对夫妻孕后所生育后代的听力均未发现异常。结论常见耳聋基因突变位点在普通人群具有较高的携带率,如果列入孕前筛查项目,可初步实现遗传性耳聋的一级预防,有效减少聋儿的出生率。
[Abstract]:Objective to investigate the carrying rate of 21 common deafness gene mutations in childbearing age couples. Methods: after signing the informed consent letter, each of the subjects was selected from the peripheral blood and carried out GJB2 / GJB3. A total of 21 loci of mitochondrial DNA SLC26A4 were determined. Genetic counseling and fertility guidance were provided according to the test results. Results A total of 56 couples of childbearing age were screened out 6 cases with common deafness gene mutation, among which 3 cases carried GJB2 mutation 2.679%. Three patients with SLC26A4 mutation 2.679 were not found to be carrying the same deafness mutation gene. The risk of deafness in offspring was predicted to be zero. No abnormal hearing was found in the 16 couples who were followed up. Conclusion the mutation locus of common deafness gene has a high carrying rate in the general population. If pre-pregnancy screening is included, the primary prevention of hereditary deafness can be achieved, and the birth rate of deaf children can be effectively reduced.
【作者单位】：河北省儿童医院病理科;河北医科大学第三医院;
【分类号】：R764.43;R440
【正文快照】： 耳聋是一种较为常见的致残疾病,会严重影响人类健康,给人类带来巨大的经济和社会负担。其中60%的耳聋与遗传因素相关[1],另外40%与环境因素有关。对于环境因素导致的耳聋,可以通过预防感染、避免使用耳毒性药物进行预防;而对于遗传因素相关的耳聋,明确病因才是关键。遗传性耳

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