Screening of mutations of deafness-related genes in women of child-bearing age from Shijiazhuang area.
- Author:
Yuanyuan PENG
1
;
Donglan SUN
;
Lijuan ZHAO
;
Yanhua ZHANG
;
Xia ZHAO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Connexin 26; Connexins; genetics; Deafness; genetics; Female; Humans; Mutation
- From: Chinese Journal of Medical Genetics 2016;33(4):462-465
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen for mutations of deafness-related genes among ethic Chinese women of child-bearing age.
METHODSIn 324 women, 9 mutational sites in 4 deafness-related genes (SLC26A4, GJB3, GJB2 and mtDNA 12s rRNA) were screened using a gene chip.
RESULTSTwenty women (6.17%) have carried mutations. These included 11 (3.40%) carrying a GJB2 gene mutation, 7 (2.16%) carrying a SLC26A4 gene mutation, 1 (0.31%) simultaneously carrying GJB3 and GJB2 gene mutations, and 1 (0.31%) carrying a mtDNA 12s rRNA gene mutation.
CONCLUSIONWomen of child-bearing age have a high rate for carrying mutations of common deafness-related genes, among which 235delC in GJB2 was most common. Prenatal screening of couples with normal hearing is an effective way to prevent birth of affected children.
