一般孕妇人群中筛查耳聋相关基因的回顾性分析  

Perspective analysis on deafness gene screening in general pregnant women

作　　者：张萌[1] 李珊珊[1] 杨树法[1] 司艳梅[1] 段朗[1] 赵娟[1] 

机构地区：[1]首都医科大学附属北京妇产医院北京妇幼保健院,北京100026

出　　处：《中国优生与遗传杂志》2016年第5期22-24,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析北京地区24078例孕妇耳聋相关基因的产前筛查与产前诊断对预防聋儿出生的效果。方法采用耳聋基因芯片法检测中国人常见的4个基因共9个热点突变,对检出的突变携带者,嘱其丈夫进行相关基因的检测及夫妻双方的产前遗传咨询,高危携带者进行产前诊断,对其分娩的新生儿同时进行耳聋基因筛查和听力筛查。结果在所有受试人群中耳聋基因的总体突变率4.77%,单个基因的突变率分别为GJB2基因2.67%、SLC26A4基因1.55%、GJB3基因0.29%、线粒体12Sr RNA 0.20%。在携带耳聋相关基因突变的孕妇中,有62.2%的患者进行了进一步产前遗传咨询,最终有2例突变携带孕妇选择了终止妊娠。结论在一般孕妇人群中筛查耳聋基因可有效检出大量潜在的耳聋易患人群,并可有效降低聋儿的出生,对耳聋基因携带者再生育健康子女也起到一定指导作用。Objective：The results of prenatal deafness genes screening and diagnosis were analyzed in 24078 pregnant women to identify any preventive effect to deafness coming. Methods：Using micro-array technology to detect nine hot sites in four genes which were the most common mutations in china. The prenatal genetic counseling and prenatal diagnosis were used in female carriers and their husbands. The newborns of carriers were screened deafness genes and hearing. Results：The mutation rate of deafness genes was 4.77% in the cohort. In addition,the mutation rate of GJB2、SLC26A4、GJB3 and mt DNA 12 Sr RNA were 2.67%、1.55%、0.29% and 0.20% respectively. There were 62.2% carriers pregnant continue accepting prenatal genetic counseling and diagnosis. Finally,two pregnant women chose termination of pregnancy. Conclusion：Deafness genes screening could find a lot of people which susceptible to deaf,and reduce the birth of deaf children effectively. It will provide a good guide for high risk couples to have a healthy baby.

关 键 词：耳聋 基因突变 产前筛查 产前诊断 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]