201例妊娠前女性常见耳聋基因的突变筛查

目的：对妊娠前女性进行常见耳聋基因突变筛查，初步测算天津地区育龄女性常见耳聋基因的突变频率和突变类型。方法：应用耳聋基因芯片，针对GJB2，SLC26A4，GJB3基因以及线粒体12S rRNA基因的9个突变热点，对201例妊娠前女性进行携带者筛查，对检测到携带突变的女性的配偶进行GJB2或SLC26A4基因的Sanger测序。结果：在201例样本中共检出突变携带者10例，检出率为4.98%。包括GJB2基因突变6例，SLC26A4基因突变3例，线粒体12S rRNA基因突变1例。对10例携带者配偶进行测序发现1例GJB2基因235delC杂合突变携带者的配偶携带109G＞A杂合突变。结论：对听力正常女性进行常见耳聋基因突变检测可有效筛查出携带者，进而可以为减少聋儿出生提供线索和依据。

Screening of Mutations of Deafness-related Genes in 201 Preconception Women

Objective:To screen the mutations of four major deafness-related genes in preconception women,and to evaluate the frequency and type of common mutations of child-bearing aged women in Tianjin area.Methods:Nine mutations in four genes including GJB2,SLC26A4,GJB3 and mtDNA 12S rRNA were analyzed in 201 preconception women using a designed genechip.The partner of the mutation carrier was detected by Sanger sequencing of GJB2 or SLC26A4 gene.Results:Ten women (4.98％) carried one mutation.Among them,six carried a mutation of GJB2 gene,three carried a mutation of SLC26A4 gene,and one carried a mutation of mtDNA 12S rRNA.The partner of one carrier with the 235delC heterozygosis mutation of GJB2 gene carried the mutation 109G＞A heterozygosis mutation.Conclusions:Screening of the mutations of deafness-related genes is an effective method to find those carriers and to reduce the birth rate of deaf children.