中华耳科学杂志Issue(1)：97-100,4.DOI:10.3969/j.issn.1672-2922.2015.01.018
50个聋儿家庭再生育前的基因突变分析研究
Gene Mutation Analysis and Future Birth Risk Assessment in 50 Families with Hearing Impaired Children
摘要
Abstract
Objective To identify possible gene mutations in 50 families with children suffering from hearing loss to as⁃sess risk of hearing impairment in future pregnancies and hopefully provide guidance for their birth plans. Methods Genomic DNA was extracted from peripheral blood. Sanger sequencing techniques were utilized to analyze GJB2, SLC26A4, mitochon⁃drial DNA 12SrRNA 1494 and 1555. Results Gene mutations were found in 22 of the 50 families, of which 12 showed GJB2 gene mutations (235 del C, 176 del 16bp, 299_300 del AT, 257 C>G, 427 C>T, 189 del 14bp, 605 ins 46bp) and 10 showed SLC26A4 gene mutations (IVS7-2 A>G, 2168 A>G, 317 C>A, 413-414 del T, 589 G>A, IVS15+5 G>A, 1229 C>T, 1594 A>C, 1975 G>C, 2027 T>A). Conclusion Even without clear hereditary history, families with hearing loss children can benefit from gene analysis for future birth risk assessment.关键词
耳聋/基因诊断/GJB2/SLC26A4Key words
Deafness/Genetic diagnosis/GJB2/SLC26A4分类
医药卫生引用本文复制引用
王淑娟,梁鹏飞,王剑,陈阳,邱建华..50个聋儿家庭再生育前的基因突变分析研究[J].中华耳科学杂志,2015,(1):97-100,4.基金项目
国家自然科学基金（81300832）；国家“973”项目课题 （）
