孕期女性常见耳聋基因筛查在非综合征型耳聋出生缺陷防控中的应用

The application of common deafness genes screening for pregnant women in the prevention and control of nonsyndromic hearing loss birth defect

目的对沈阳地区孕期女性常见遗传性耳聋热点基因突变筛查,了解本区域正常听力人群中耳聋基因热点突变频率和分布特征。方法2015年10月1日至2018年9月31日共有2942例听力正常的孕妇针对中国人群中常见的4个遗传相关耳聋基因上的9个位点进行了耳聋基因芯片检测,筛查结果为阳性者建议其配偶进行耳聋基因芯片检测及相关基因测序,当夫妻双方为同一耳聋基因突变携带者,给予遗传咨询和生育指导。结果在2942例受检孕妇中,共检出携带常见耳聋基因突变者165例(5.61%);其中有11例为夫妻双方均携带致病耳聋基因,对夫妻双方携带同一致病基因的,建议行羊水穿刺针对胎儿进行基因诊断;对夫妻双方携带不同基因上耳聋致病基因位点的,未进行诊断,继续妊娠;并对携带耳聋基因突变的孕妇进行电话回访。结论在沈阳地区耳聋基因在正常人群中的携带率约为5.61%,且以GJB2235位点突变为最多,其次为SLC26A4基因IVS7-2 A>G位点突变,由此可见,对沈阳地区孕期女性进行常见耳聋基因筛查,通过遗传咨询及产前诊断有助于减少该地区非综合征型遗传性聋儿的出生。

Objective Common hereditary deafness hot-spot gene mutation screening were implemented in pregnant women in Shenyang area to understand hotspot deafness gene mutation frequency and distribution characteristics in regional normal hearing people.Methods 2942 pregnant women with normal hearing from October 1,2015 to September 31,2018 received deafness gene chip detection on 9 loci of common 4 hereditary deafness genes of Chinese crowd,we suggested that their spouses received deafness gene chip detection and gene sequencing when the screening result was positive.We provided genetic counseling and guidance for both sides of husband and wife with the same deafness gene mutation locus.Results 165 cases(5.61%)of common deafness gene mutation were detected in 2942 cases of pregnant women,both sides of husband and wife in 11 cases carried pathogenic deafness genes.We suggested taking amniocentesis for the genetic diagnosis of the fetuses for both sides of husband and wife with the same deafness gene mutation locus.Husband and wife with different deafness gene mutation loci continued pregnancy without genetic diagnosis.We provided the telephone followup for pregnant women carrying deafness gene mutations.Conclusions The carrying rate of deafness genes in the normal people in Shenyang area was 5.61%,GJB2235 locus mutation was the most common,followed by SLC26A4 gene locus mutation IVS7-2 A>G.Common deafness genes screening in pregnant women in Shenyang region,through genetic counseling and prenatal diagnosis,helps to reduce the nonsyndromic hereditary hearing loss children born in the region.