郑州大学学报（医学版）2011，Vol.46Issue(3)：385-388,4.
儿童耳聋家庭GJB2、SLC26A4和mtDNA基因型检测及产前咨询
Genetic testing of GJB2, SLC26A4 and mtDNA ( C494T, A1555 G) mutation and prenatal counseling with deafness families of children
摘要
Abstract
Aim: To identify the genetic causes for hearing loss in children and present a prenatal counseling. Methods: Thirteen families with deafness children were performed audiologically genetic testing. Blood samples were obtained and DNA was extracted. The coding region of GJB2 gene,SLC26A4 and mitochondrial DNA target fragments were amplified by PCR. Mutations in GJB2 gene, SLC26A4,mtDNA 1494C→T and mtDNA 1555A→G were identified by sequencing a-nalysis. Results: Of 13 children families, 4 had GJB2 mutations,2 had SLC26A4 mutations and one had mtDNA1555A G mutation. Genetic counseling was for these families. Conclusion: Genetic testing may provide prenatal counseling for sen-sorineural deafness children families.关键词
听力障碍/儿童/基因诊断/产前咨询Key words
hearing loss/child/genetic testing/prenatal counseling分类
医药卫生引用本文复制引用
周艾,方如平,戴朴,李琦..儿童耳聋家庭GJB2、SLC26A4和mtDNA基因型检测及产前咨询[J].郑州大学学报（医学版）,2011,46(3):385-388,4.基金项目
南京市医学科技发展基金重点资助项目 ZKX09009 （）
