【摘要】：目的調(diào)查滄州地區(qū)極重度感音神經(jīng)性耳聾患者耳聾基因突變分子病因?qū)W情況。方法對(duì)滄州市特教學(xué)校241名學(xué)生進(jìn)行聾病病因?qū)W問(wèn)卷調(diào)查、純音聽(tīng)力測(cè)試并應(yīng)用基因芯片技術(shù)行耳聾基因檢測(cè)。結(jié)果 241名受試者中有39人檢出基因突變,占總?cè)藬?shù)的16.2%,其中GJB2突變25人,占總?cè)藬?shù)的10.4%,GJB2235delc純合突變12人,299del AT純合突變1人,單雜合突變6人,均為235delc位點(diǎn)突變,復(fù)合雜合突變6人;GJB3突變1人,占0.41%;SLC26A4突變14人,占5.8%,3人為IVS7-2AG純合突變,10人為ⅣS7-2AG單雜合突變,1人為復(fù)合雜合突變。結(jié)論滄州市特教學(xué)校極重度感音神經(jīng)性聾人群存在較高的遺傳性耳聾發(fā)生率,通過(guò)耳聾基因檢查,可明確耳聾病因,從而達(dá)到防聾及評(píng)估耳聾預(yù)后等積極效果。
[Abstract]:Objective to investigate the molecular etiology of deafness gene mutation in patients with very severe sensorineural hearing loss in Cangzhou. Methods A total of 241 students from Cangzhou Special Education School were investigated on the etiology of deafness, pure tone audiometry and gene chip technique were used to detect the deafness gene. Results 39 of 241 subjects (16.2%) were found to have gene mutations, including 25 GJB2 mutations, 12 homozygous mutations of GJB2235delc, 1 homozygous mutation of 299del AT, and 6 single heterozygous mutations. All of them were 235delc locus mutations and 6 were compound heterozygosity mutations. GJB3 mutation was found in 1 person (0.41%) and SLC26A4 mutation (14 cases), accounting for 5.8% of IVS7-2AG homozygous mutation, 10 cases of 鈪，

本文編號(hào)：2409314