The Application of Genetic testing of Deafness Genes in Hereditary Deafness Diagnosis and Genetic Counseling
ZHANG Haoyu
ZHANG Ning
ZHANG Hua
ZHU Junzhen
Abstract：Objective To determine the cause of deafness through genetic testing, which can be used as the basis for genetic counseling and intervention measures provided to clients. Method After providing information of the purpose, methods, and significance of genetic testing, hereditary deafness gene chip and gene sequencing were used to test common deafness genes in 21 volunteers from 7 families. Results Among the 21 volunteers ,we found 1 case carrying homozygous GJB2 235delC mutation, 4 cases carrying compound heterozygous mutations, 2 cases carrying double heterozygous GJB2 235delC and SLC26A4 IVS7-2A>G mutations,12 cases carrying simple heterozygous mutations (GJB2 mutations in 2 cases and SLC26A4 mutations in 10 cases), and 2 cases showing no GJB2 or SLC26A4 mutations. Clients received genetic counsel-ing and intervention based on the particular etiologies and needs of each client. Conclusion Clinical deafness gene testing can provide efficient guidance for genetic counseling, evaluation of risk of birth of deaf babies, as well as prenatal diagnosis and intervention.
Keywords：hereditary deafnessgenetic testingprenatal gene diagnosismutationgenetic counseling
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 639-643 )