江西省1409例孕期女性耳聋基因筛查结果及耳聋出生缺陷的防控  

Screening results of deafness genes in 1 409 pregnant women in Jiangxi province and prevention and control of congenital deafness

作　　者：谢康[1] 刘艳秋[1] 阳彦[1] 夏秋平[1] 罗海艳 

机构地区：[1]江西省妇幼保健院产前诊断中心,江西南昌330006

出　　处：《中国妇幼保健》2017年第18期4464-4467,共4页Maternal and Child Health Care of China

摘　　要：目的明确江西省1 409例听力正常的孕期女性常见耳聋基因突变携带率,对其进行遗传咨询,并对高危夫妇采取必要的出生缺陷干预。方法在进行充分知情告知的情况下,抽取孕妇外周血。提取基因组DNA,利用基因芯片技术检测常见耳聋基因突变。对携带突变的孕妇配偶进行测序。根据检测结果提供相应的遗传咨询与生育指导,并进行产后随访。结果1 409例孕期女性中,共检出常见耳聋基因突变携带者68例(4.83%),其中45例携带GJB2基因突变(3.19%),19例携带SLC26A4基因突变(1.35%),3例携带线粒体基因突变(0.21%),1例携带GJB3基因突变(0.07%)。共60例耳聋基因突变携带者的配偶进行了相应的基因测序分析。2对夫妇双方同为GJB2基因突变携带者,均接受了耳聋产前诊断。检测结果显示,其中1例胎儿为GJB2 235delC纯合突变,预测其为遗传性耳聋患者。3例孕妇携带线粒体12SrRNA 1555A>G均质突变,预测后代亦为该突变携带者,对其进行了药物性耳聋的遗传咨询。随访发现,其余未检测到突变的1341例孕妇生育的后代听力均正常。结论对孕期女性开展常见耳聋基因筛查,可初步实现遗传性耳聋的二级预防,有效减少耳聋患儿的出生。Objective To determine the carrying rate of common deafness gene mutations iu 1 409 pregnant women with normal hearing in Jiangxi province, conduct genetic counseling, and take necessarybirth defect intervention measures fur high-risk couples. Methods Pe- ripheral blood samples of pregnant women were collected based on informed consent. Genomic DNA was extracted, gene chip technology was used to detect common deafness gene mutations. The husbands of pregnant women carrying mutations were detected hy gene sequencing. Corresponding genetic counseling and fertility guidance were provided based on the results, postpartum follow-up was conducted. Results Among 1 409 pregnant women, 68 eases （4.83%） were detected with common deafness gene mutations, including 45 cases with GJB2 gene mutations （3.19%）, 19 cases with SLC26A4 gene mutations （1.35%）, 3 cases with mitochondrial gene mutations （0. 21% ）, and 1 case with GJB3 gene mutation （0. 07% ） . The husbands of 60 pregnant women carrying mutations received gene sequencing. Two couples were found with GJB2 gene mutations in both husband and wife, and both of them accepted prenatal diagnosis for deafness. The fetus of one couple was identified with homozygous GJB2 235delC mutation that could lead to deafness. The infants of three pregnant women with homoplasmic 12SrRNA 1555A〉G mutation were carriers of the same mutation, and genetic counseling and medication guidance were provided for them. The infants of the other 1 341 pregnant women without mutation were found with normal hearing during follow-up. Conclusion Screening of deafness genes in pregnant women may facilitate secondary prevention of inherited deafness, which will lead to the reduction of children with deafness effectively.

关 键 词：江西地区 孕期女性 耳聋基因 出生缺陷防控 

分 类 号：R394[医药卫生—医学遗传学]