Wang Li, Zhao Hui-ru, Liao Shixiu, Yang Yan-li, Li Tao, Zhang Bing, Ding Xue-bing, Ma Song, Liu Hong-jian
Medical Genetics Institute and Department of Ear, Nose and Throat, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, P. R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):518-21. doi: 10.3760/cma.j.issn.1003-9406.2013.05.003.
To detect genetic mutations underlying non-syndromic hearing impairment (NSHI) and establish a method for prenatal diagnosis.
Sixty six NSHI patients were included in this study. DNA was extracted from peripheral blood. Genetic mutations were detected by gene chip analysis and direct sequencing of GJB2 gene. For 7 pregnant women at high risk, prenatal genetic diagnosis was provided.
Fourteen cases (21.21%) were found to have GJB2 mutations by both methods (homozygous 235delC mutation in 3 cases, homozygous 176del16 mutation in 2 cases, 235delC and 299delAT compound heterozygous mutation in 2 cases, 299delAT and 176del16 compound heterozygous mutation in 1 case, c.339T > G and 313del12bp compound heterozygous mutation 1 case, and 235delC heterozygous mutation in 5 cases). 13 (19.70%) had SLC26A4 mutations (IVS7-2 A >G homozygous mutation in 2 cases, IVS7-2 A > G homozygous mutation in 2 cases, IVS7-2 A > G and 2168A > G compound heterozygous mutation in 3 cases, 2168A>G heterozygous mutation in 3 cases, and IVS7-2 heterozygous mutation in 3 cases); and 3 had mtDNA12S rRNA mutation (1555A > G mutation in 2 cases, 1494C > T mutation in 1 case). Prenatal diagnosis suggested that 3 fetuses have carried a heterozygous mutation. Two fetuses were detected as normal and confirmed to have normal hearing after birth. Two fetuses were found to have carried compound mutations of GJB2.
Gene chip combined with GJB2 gene analysis is an accurate and effective method for the diagnosis of NSHI. The results can facilitate accurate prenatal diagnosis.
检测非综合征性听力障碍（NSHI）的基因突变并建立产前诊断方法。
本研究纳入66例NSHI患者。从外周血中提取DNA。通过基因芯片分析和GJB2基因直接测序检测基因突变。为7名高危孕妇提供产前基因诊断。
两种方法均发现14例（21.21%）有GJB2突变（3例为纯合235delC突变，2例为纯合176del16突变，2例为235delC和299delAT复合杂合突变，1例为299delAT和176del16复合杂合突变，1例为c.339T>G和313del12bp复合杂合突变，5例为235delC杂合突变）。13例（19.70%）有SLC26A4突变（2例为IVS7-2 A>G纯合突变，2例为IVS7-2 A>G纯合突变，3例为IVS7-2 A>G和2168A>G复合杂合突变，3例为2168A>G杂合突变，3例为IVS7-2杂合突变）；3例有mtDNA12S rRNA突变（2例为1555A>G突变，1例为1494C>T突变）。产前诊断提示3例胎儿携带杂合突变。2例胎儿检测为正常，出生后听力证实正常。2例胎儿被发现携带GJB2复合突变。
基因芯片联合GJB2基因分析是诊断NSHI的准确有效方法。该结果有助于准确的产前诊断。
