Screening of mutations of deafness-related genes in women of child-bearing age from Shijiazhuang area / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To screen for mutations of deafness-related genes among ethic Chinese women of child-bearing age.</p><p><b>METHODS</b>In 324 women, 9 mutational sites in 4 deafness-related genes (SLC26A4, GJB3, GJB2 and mtDNA 12s rRNA) were screened using a gene chip.</p><p><b>RESULTS</b>Twenty 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.</p><p><b>CONCLUSION</b>Women 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.</p>