摘要
目的:分析听力正常孕妇非综合征性耳聋基因GJB2、GJB3、SLC26A4和线粒体12S rRNA突变特点。方法:利用基因芯片技术,对2 000例听力正常孕妇(22~43岁)进行GJB2、GJB3、SLC26A4和线粒体12S rRNA突变筛查;对携带突变的孕妇配偶(24~46岁)进行基因测序;对夫妻携带同一突变的孕妇行羊水穿刺产前诊断,分娩3个月后门诊随访。结果:2 000例听力正常孕妇中,94例携带突变(其中3例为GJB2和SLC26A4双杂合突变),GJB2、SLC26A4、GJB3和线粒体12S rRNA突变检出率分别为2.40%、1.90%、0.30%和0.25%。GJB2基因235delC与SLC26A4基因IVS7-2A>G最为常见,检出率分别为1.45%、1.25%。94例孕妇的配偶中检出9例(9.57%)突变携带者。夫妻携带同一突变的家庭有6组:其中1例产前诊断未检出突变,1例确诊为GJB2基因杂合突变,新生儿均无听力异常;2例产前确诊为GJB2基因纯合突变,新生儿计划植入人工耳蜗;2例为SLC26A4基因复合杂合突变,其中1例自然流产,另1例计划植入人工耳蜗。结论:GJB2基因235delC和SLC26A4基因IVS7-2A>G是导致新生儿耳聋的重要突变。
Aim:To analyze the gene mutation screening results of nonsyndromic deafness genes GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA in the pregnant women with normal hearing.Methods:A total of 2000 pregnant women(22-43 years old)with normal hearing were screened using gene chip technology for the mutation of the four common deafness genes(GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA);gene sequencing tests on the spouses(24-46 years old)of pregnant women carrying deafness gene mutations was performed;amniocentesis was performed for prenatal diagnosis in pregnant women whose husband carrying the same gene mutation.Results:Among the 2000 pregnant women,94 cases with gene mutations(including 3 cases of GJB2 and SLC26A4 gene double heterozygous mutation)were detected.The detection rates of GJB2,SLC26A4,GJB3 and mitochondrial 12S rRNA mutations were 2.40%,1.90%,0.30%and 0.25%,respectively.235delC mutation of GJB2 gene and IVS7-2A>G mutation of SLC26A4 gene were the most common,with detection rate of 1.45%and 1.25%,respectively.Among the spouses of the 94 pregnant women,9(9.57%)carried mutations.There were 6 families with the same gene mutation in the husband and wife(1 case with no mutation detected in prenatal diagnosis,1 case with GJB2 heterozygous mutation,and no hearing abnormality in the newborn;2 cases were diagnosed as GJB2 homozygous mutation before delivery,and the newborn was planned to cochlear implant;2 cases were compound heterozygous mutations of SLC26A4,one of which had spontaneous abortion,and the other one planned to cochlear implant).Conclusion:235delC of GJB2 gene and IVS7-2A>G of SLC26A4 gene are the most common causes of fetal deafness.
作者
孙洁
李丹丹
聂小丽
SUN Jie;LI Dandan;NIE Xiaoli(Otolaryngology Clinic,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052;Center for Genetic and Prenatal Diagnosis,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)
出处
《郑州大学学报（医学版）》
CAS
北大核心
2023年第2期280-283,共4页
Journal of Zhengzhou University(Medical Sciences)
关键词
非综合征性耳聋
基因突变筛查
产前诊断
nonsyndromic deafness
gene mutation screening
prenatal diagnosis
