56对育龄夫妻21个常见耳聋基因突变位点检测与分析  

Screen analysis of 21 mutation spots related to deafness in 56 spouses at childbearing age

作　　者：安会波[1] 马琳[1] 刘征燕[1] 纪庆红[1] 王帅[2] 

机构地区：[1]河北省儿童医院病理科,石家庄050031 [2]河北医科大学第三医院,050031

出　　处：《中国优生与遗传杂志》2016年第9期13-15,81,共4页Chinese Journal of Birth Health & Heredity

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。Objective：Investigate the carrier rate of the 21 common deafness genes mutation in the couples of childbearing age. Methods：We have a preach to the couples of childbearing age,after every clients signed the informed consents,draw peripheral blood and test all the 21 sites of GJB2、GJB3、mitochondrion DNA、SLC26A4.We could provide genetic counseling and fertility guidance due to the results of the detection,and follow-up after the pregnant woman labored. Results：We screened 6 cases of the common deafness genes mutation carriers in all the 56 pairs couples of childbearing age（5.357%）,3 cases were carried the mutation of GJB2（2.679%）,3 cases were carried the mutation of SLC26A4（2.679%）. We have not detected both the husband and wife to carry the same deafness mutant gene,so forecast the risk that their offspring appear deafness is 0%. None of the offspring of the 16 couples that were followed up were found abnormal in the hearing. Conclusion：The common deafness gene mutation site have the higher carrier rate in the general population,if that included into the screening before pregnancy,it can be initially implemented the primary prevention of the hereditary deafness,effectively reduce the birthrate of the deaf children.

关 键 词：耳聋基因 育龄夫妻 遗传咨询 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R440[医药卫生—临床医学]