Molecular Diagnosis of Deafness Patients in Related Pathogenic Gene
Abstract：Objective tTo study the frequency and type of common gene mutation among the deaf population in Hebei Province. Methods Thirty six deafness patients from Jizhou city and Julu County, Hebei Province, were tested using deafness gene chips. Results Of the 36 patients, 13 (36.11%) showed gene mutation. Detection rate of homozygous and heterozygous mu-tation was 13.89%and 25.0%, respectively. The total detection rate in Jizhou city was 36.0%, mainly the SLC26A4 IVS7-2A>G mutation. The total detection rates in Julu County was 35.29%, including heterozygous mutations of GJB2 235delC and 299delAT. Conclusions The incidence of genetic deafness appears to be relatively high in Hebei providence, probably with some regional differences in mutation types. Detection of the common deafness gene mutations with deafness gene chips is a fast and accurate, and suitable for application during premarital consultation and pregnancy to reduce the occurrence of deaf children.
Keywords：Gene mutationhomozygous mutantionheterozygous mutationpremarital counselingPreconception coun-seling
Publication Date：2013-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 575-577 )