Gene Mutation Analysis and Future Birth Risk Assessment in 50 Families with Hearing Impaired Children
WANG Shujuan
LIANG Pengfei
WANG Jian
CHEN Yang
QIU Jianhua
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.
Keywords：DeafnessGenetic diagnosisGJB2SLC26A4
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 97-100 )